HIGH YIELD EMBRYOLOGY

EARLY EMBRYOLOGY
Teratogen

substance affecting migration, proliferation or interaction of cells;

an environmental cause of congenital anomalies
pruning of the sperm glycocalyx; permits the sperm-oocyte

Capacitation
interaction
Dizygotic (fraternal) twins
arises from multiple ovulations (high levels of FSH)
Monozygotic (identical) twins arise from splitting of a single zygote
Human chorionic gonadotrophin (hCG)
secreted by syncytiotrophoblast
Progesterone
secreted by corpus luteum for five months, then by placenta;
contraceptive pill and RU-486 are anti-progesterones
Gastrulation
process where the epiblast gives rise to mesoderm, endoderm
and ectoderm
Notochord
derives from both endoderm and mesoderm; forms the
nucleus pulposus
Alpha-fetoprotein
liver glycoprotein; leaks into amniotic fluid with neural tube or
ventral wall defects

Most organ systems are susceptible to the effects of teratogens during the embryonic
period; during the fetal period the brain, eyes, ears, teeth, palate and external
genitalia are susceptible.
Ectopic pregnancy involves ~2% of all pregnancies and 95% occur in the uterine
tubes
Placenta previa implantation of the placenta over or near the internal os of the
cervix
Placental abruption placenta becomes disconnected from the uterine wall
Placenta accreta the placenta adheres to the myometrium
Placenta percreta penetrates the full thickness of the myometrium and fails to
separate from the uterine wall
Erythroblastosis Fetalis (Hemolytic disease of the newborn): occurs when
there is a Rh incompatibility between mother and fetus mom has to be exposed to
fetal blood (tramua, birth); mom makes antibodies (IgG) against the fetal antigen and
these antibodies can cross the placenta; if there is a future pregnancy with a Rh
incompatibility, these antibodies can cross the placenta and attack fetal red blood
cells, causing anemia and edema (fetal hydrops)
Hydatidiform mole - Occasionally the developing embryo dies and the chorionic villi
fail to vascularize, resulting in the formation of a cystic swelling of the uterus
(hydatidiform mole). Hydatidiform moles can reach various stages of development
and typically produce excessive amounts of hCG. Complete moles (90% are 46, XX)
are essentially a placenta without an embryo and have only paternal chromosomes,
have high hCG, hypertension and bleeding. Complete hydatidiform moles present
with vaginal bleeding, hyperemesis, uterine enlargement greater than expected for
gestational age, pre-eclampsia and theca lutein cysts. Partial moles result from a
poorly developed embryo and are always triploid (XXX, XXY or XYY), usually develop
by fertilization of an oocyte by two sperm and involve at least some fetal tissue.
Patients with partial moles will also have high hCG.

Holoprosencephaly
results from the death of midline cells (alcohol)
causes a deficiency of midline head structures
Situs inversus
Complete all organs are a mirror image of normal
Incomplete only a single organ is involved (e.g. heart)
Sirenomelia
caudal dysgenesis resulting from inadequate mesoderm in caudal regions
limb defects, urogenital defects
Sacrococcygeal teratoma
results from the persistence of the primitive streak and pluripotent cells
1 in 37,000
Important chromosomal abnormalities:
Trisomy 21, 18 and 23
Klinefelters Syndrome
Turner Syndrome
Triple X
Angelman Syndrome
Prader-Willi Syndrome
Alpha-feto protein:
Elevated in fetal body wall defects
Decreased in maternal serum in trisomy 21 and 18

MUSCULOSKELETAL
1. Congenital malformations of the vertebral column
Scoliosis abnormal curvature because of improper fusion or formation
Variations in the number of vertabrae there can be additions or subtractions
in the number of vertabrae
Sternum pes excavatum; cleft sternum
Hemivertabrae abnormal fusion resulting in misformed vertabrae
Accessory ribs/Fused ribs Spina bifida occulta incomplete neural arc; usually asymptomatic and
accompanied by a patch of hair over the lesion
Klippel-Feil syndrome short neck from reduced number of cervical vertebrae
Chordoma remnants of the notochord may give rise to malignant tumors that
invade bone; they develop at the base of the skull and in the lumbar region
2. Congenital malformations of muscle
Muscular dystrophies conditions that result in weakness and muscle atrophy
Accessory muscles abnormal splitting of myotomes
Poland anomaly congenital absence of the pectoralis major
Congenital torticollis contracture or shortening of the sternocleidomastoid
3. Congenital malformations of bone

Achondroplasia - the cause of dwarfism (1 in 15,000); limbs are bowed and short;
results from a disturbance of endochondral ossification at epiphyseal plates.
Thanatophoric Dysplasia - a lethal skeletal dysplasia (1 in 20,000); infants die
soon after death because of respiratory failure; attributed to a fibroblast growth
factor receptor deficiency
4. Congenital malformations of the limbs - limb defects are classified as either:
amelia (absence of an entire limb or meromelia (absence of part of a limb)
Cleft Hand or Foot
Lobster claw deformity fusion of digital rays
Absence of central digits fusion of digital rays
Failure of digital rays to form absence of digits
Floating Thumb: absence of the metacarpal bone in the thumb; phalanges are
intact
Congenital Absence of Radius: the radius fails to form; hand deviates laterally
Finger Anomalies:
Brachydactyly: the digits are relatively short; this is often associated with short
stature.
Polydactyly: supernumery digits extra division of digital rays, the extra digit is
usually useless
Syndactyly: this defect occurs 1 in 2200 and is characterized by the fusion of
the digital rays; can be cutaneous (webbing of the digits) or osseous fusion of
bones.
Macrodactyly: finger of adult size at birth; usually diminish with age
Congenital Clubfoot (Talipes): any defect involving the talus (1 in 1000), results
from abnormal orientation of the foot that prevents normal weight bearing.
Congenital Dislocation of Hip: results from laxity of the joint capsule or
underdevelopment of the acetabulum
Genu Recurvatum: congenital hyperextension of the knee; returns to normal
alignment without intervention

CENTRAL NERVOUS SYSTEM

A. Neural tube defects - improper closing of the neural tube, can be detected with
amniocentesis (elevated alpha fetoprotein); prevented by folate
1. Issues related to the caudal neuropore:
Spina bifida occulta involves only the vertebral arch, usually the only
evidence is a small tuft of hair over the lesion
Spina bifida cystica vertebral arch defect + a cyst like mass
Meningocele only meninges
Meningomyelocele involves some neural tissue (rootlets), meninges and
CSF
Spina bifida with myeloschisis - the neural folds fail to fuse posteriorly and
the spinal cord is open to the exterior
2. Issues related to the rostral neuropore:

Meroanencephaly/Anencephaly - results from a failure of the anterior

neuropore to close, the brain tissue in this region undergoes degeneration;
incompatible with life outside the uterus, accompanied by elevated alphafetoprotein and polyhydramnios (the fetus lacks the control for swallowing)

B. Spinal dural sinus indicated by a dimple in the lumbar region; indicates the region
of closure of the caudal neuropore; can be connected through a fibrous cord to the
dura mater
C. Tethered Cord Syndrome defect in secondary neurulation; the conus medullaris
and filum terminale are abnormally fixed to vertebral column; associated with lower
limb and bladder control problems
D. Hirschsprungs Disease - occurs in 1 in 5000 live births, delayed passage of
meconium; results in constipation, vomiting, abdominal distension and rupture of the
cecum; caused by the failure of the gut to become invaded by neural crest cells; as a
result this part of the gut is non-peristaltic
E. Craniopharyngiomas arise from remnants of Rathkes pouch; associated with
diabetes insipidus and visual deficits
F. Schizencephaly large clefts in cerebral hemispheres continuous with ventricles
G. Lissencephaly decreased number of gyri, smooth surfaced cortex
H. Neuronal heterotopia - neurons in the wrong location, usually associated with
ependyma
I. Arnold-Chiari malformation herniation of cerebellum through an enlarged
foramen magnum; associated with spina bifida cystica
J. Dandy-Walker enlarged posterior fossa, absent cerebellar vermis replaced by
midline cyst
K. Agensis of the corpus callosum associated with misshapen (bat-wing) lateral
ventricles
L. Cranium bifidum - refers to a cranial defect in one of the thin bones of the skull,
allows structures to herniate out of the skull; levels of severity:
Meningocele only meninges
Meningoencephalocele meninges and brain tissue
Meningohydroencephalocele meninges, brain and ventricle
M. Microcephaly - results from a defect in the growth and development of the CNS the
brain fails to grow; the growth of the calvaria results from increased pressure caused
by growth of the brain so a small brain ceases to stimulate growth of the skull
beyond some base level, as a result these individuals experience severe mental
handicaps.
N. Hydrocephalus - results from impaired circulation or absorption of CSF, a congenital
constriction of the ventricular system can cause accumulation of CSF, dilation of the
ventricles and compression of the cerebral cortex; congenitally this occurs at the
cerebral aqueduct.

RESPIRATORY SYSTEM
A. Atresia and Fistulas - esophageal atresia results from abnormal partitioning of the
esophagus and trachea and involves a narrowing or closure of the esophagus; can

occur with or without a fistula; most tracheoesophageal fistulas involve a proximal

esophageal pouch and a distal esophagus that communicates with the airway;
associated with polyhydraminos.
B. Laryngotrachesophageal cleft: the larynx/trachea fail to completely separate from
the esophagus; distinguished from fistulas by aphonia
C. Tracheal diverticulum: a blind pouch projecting from the trachea
D. Lobe of the azygous vein: in 1% of people the azygos vein creates a deep groove
along the apex of the right superior lobe of the lung
E. Congenital lung cysts: formed from dilation of terminal bronchi, usually at the
periphery of the lung; if multiple cysts form the lungs will have a honeycomb
appearance
F. Respiratory Distress Syndrome - results from insufficient surfactant, causing
alveoli to collapse during expiration. This is a common cause of death to premature
infants. Tissue damage results in cellular and serum proteins accumulating in the
partially collapsed alveoli; further damage will result in detachment of the alveolar
lining this is called HYALINE MEMBRANE DISEASE (the desquamated cells look like
hyaline cartilage). This can be addressed with surfactant replacement therapy and
glucocorticoids to stimulate surfactant production.
G. Ectopic Lung Tissue - results from lobes of lung tissue arising from the trachea or
esophagus.
H. Hypoplasia associated with congenital diaphragmatic hernias; characterized by
reduced lung volume and hypertrophy of the smooth muscle in pulmonary arteries;
pulmonary hypertension leads to decreased blood flow through the lung [blood is
shunted through a PDA]
I. Accessory Lung: extra lung tissue, found usually along the base of the left lung but
does not receive pulmonary vessels (instead gets systemic circulation)
J. VACTERL association
Esophageal atresia and Tracheoesophageal fistulas are commonly associated with
other birth defects. Often cranial malformations are associated with caudal
malformations:
V vertebral defects
A anal atresia
C cardiovascular anomalies
T E tracheoesophageal fistula
R renal defects, radial forearm anomalies
L limb defects

CARDIOVASCULAR
1. Dextrocardia: right-sided heart; situs inversus involves all organs in the body
cavity
2. Ectopia cordis: ventral wall defect where the heart is on the outside of the thorax
3. Sudden infant death syndrome: possibly caused by abnormalities in the cardiac
conducting system?

4. Atrial septal defects (ASD) - can involve a persistent ostium secundum; common
atrium; defect in the endocardial cushions and sinus venosum, probe patencies have
an incidence of ~10%
5. Ventricular septal defect - typically involves the membranous portion of the
septum; the clinical consequences depend on the size of the defect: a large defect
can cause left to right shunting of blood while a small defect may close spontaneously
6. Cor triloculare biventriculare absence of a atrial septum resulting in a three
chambered heart
7. Premature closure of the oval foramen leads to hypertrophy of the right atrium
and ventricle and hypotrophy of the left chambers; patient typically dies shortly after
birth
8. Transposition of the great vessels - the septum that normally divides the aorta
and pulmonary trunk does not form properly
9. Pulmonary valve stenosis/Atresia:
10. Tricuspid valve stenosis/Atresia:
11. Ebstein anomaly: improper formation of the tricuspid valve where the valves are
partially fused to the ventricular wall; part of the right ventricle becomes atrialized;
accompanied by tricuspid regurgitation; indicated by cyanosis and heart failure;
usually accompanied by a ASD
12. Hypoplastic left heart syndrome: poorly developed left ventricle; as blood
returns from the lungs it must pass through an ASD to the right atrium, into the right
ventricle and then through a patent ductus arterious into the systemic circulation;
without surgical correction this condition is fatal
13. Tetralogy of Fallot a group of four cardiac defects:
pulmonary stenosis
ventricular septal defect
right ventricular hypertrophy
dextroposition of the aorta aorta gets blood from the right ventricle
14. Persistent truncus arteriosus
conotruncal ridges do not fuse
accompanied by IV septal defect
the truncus gets blood from both ventricles
15. Aortic Valvular atresia / stenosis
16. Patent ductus arteriosus 2x more common in males; associated with rubella
infection/birth at high altitude; continuous machine-like murmur in the upper left
sternal border
17. Coarctation of the aorta characterized by a constriction of the aorta, most are
directly opposite the ductus arteriosus
post-ductal adult; constriction is distal to DA
pre-ductal infantile; constriction is proximal to DA
with PDA cyanosis in lower extremities; usually require surgical intervention
without PDA weak pulses in lower extremity, rib-notching; may be asymptomatic
18. Abnormal origin of the right subclavian artery

19. Double inferior vena cava persistence of left supracardinal vein, may be
mistaken for enlarged lumbar lymph nodes; pulmonary embolism after insertion of an
IVC filter

GASTROINTESTINAL
1. Congenital Diaphragmatic Hernia (Hernia of Bochdalek) - a common
malformation of the newborn (1/2000), results from failure of the pleuroperitoneal
membrane to close the pericardioperitoneal canal, most common (85-90%) on the left
left canal is larger and closes later, has a high rate of mortality because of
pulmonary dysfunction.
2. Esophageal Hernia (Hiatal) - common; due to a defect in the right crus and/or
short esophagus, the stomach is constricted at the level of the diaphragm or may
herniate into thorax
3. Parasternal Hernia - uncommon; results from a deficit between the sternal and
costal heads of the diaphragm, may go undetected until the child is several years old
4. Esophageal atresia - Atresia results from deviation of the tracheoesophageal
septum so there is incomplete separation of the esophagus and trachea; associated
with polyhydraminos
a. achalasia lack of ganglion cells tonically contracted = dysphagia
5. Congenital hypertrophic pyloric stenosis thickening of the pylorus, results in
obstruction and the stomach becomes distended; associated with projectile vomiting
6. Duodenal stenosis usually results in bile containing vomit
7. Duodendal atresia vomiting begins a few hours after birth, contains bile with
distention of the epigastrium (double bubble sign)
8. Accessory hepatic ducts variations in the hepatic ducts are common
9. Extrahepatic biliary atresia most common form is atresia of the bile ducts;
jaundice occurs shortly after birth and stool is clay-colored and urine is dark
10. Pancreas
a. Accessory pancreatic tissue located in the wall of the stomach or Meckels
diverticulum (see below)
b. Annular pancreas - ventral pancreatic bud encircles and constricts the
duodenum; males more commonly affected than females
11. Omphalocele - failure of the midgut to return to the abdominal cavity after
physiological herniation; covered by the amnion
12. Umbilical hernia the protruding mass is covered by subcutaneous tissue and
skin
13. Gastroschisis (Congenital Umbilical Hernia) - intestines herniate into umbilical
cord after returning to the abdominal cavity, involves a rupture of the amnion
14. Meckels Diverticulum (~1/100) - results from a persistence of the vitelline
duct; produces acid ulceration and bleeding!
RULE OF 2s:
affects 2% of population
found 2 feet from iliocecal valve
typically about 2 inches long
contains 2 types of ectopic tissue (stomach and pancreas)

 age of presentation is typically 2 years of age

males are 2X more likely to be affected
15. Malrotation the gut rotates the wrong way; the cecum ends up on the left side
16. Mobile cecum cecum has a mesentery and is mobile, can form volvulus
17. Hirschsprungs Disease - failure of neural crest cells to migrate to the caudal
1/3 of the large intestine, results in the absence of parasympathetic ganglia
18. Fistulas involves improper formation of urorectal septum; rectovaginal;
rectourethral
19. Hindgut
c. Imperforate anus persistence of anal membrane
d. Anal stenosis
20. Atresia
interruption of the gut tube
symptoms include vomiting:
-esophagus - milk not curdled
-gastric - milk curdled
-duodenum - bile

URINARY
1. Wilms tumor congenital tumor of the kidney
2. WAGR syndrome
W Wilms tumor
A aniridia
G genitourinary/gonadoblastoma
R mental retardation
3. Accessory renal arteries common; resulting from the ascent of the kidney; can
obstruct a ureter and cause hydronephrosis
4. Polycystic Kidney - numerous cysts form on the kidney, genetic in origin; the kidney
become very large and renal failure occurs, requires kidney transplant for survival
5. Renal Agenesis - occurs when the ureteric bud fails to reach the metanephric
mesoderm; associated with oligohydramnios; bilateral = incompatible with life
6. Pelvic Kidney - As the kidney ascends towards the abdomen, they pass between the
two umbilical arteries. Occasionally, one gets blocked and remains in the pelvic
cavity. This is a rare disorder (1/3,000).

Fused kidney:

Pancake kidney:
7. Horseshoe Kidney - during development the metanephric mesoderm fuses while in
the pelvis, normal ascent is stopped by the inferior mesenteric artery.
8. Bifid Ureter: occurs when the ureteric bud divides prematurely. This is a fairly
common disorder and the severity varies considerably.
9. Ectopic ureter - an ectopic ureter opens anywhere except into the urinary bladder
(commonly into more inferior parts of the urinary tract urethra).
10. Megaloureter: enlarged ureter with no motility; prone to infection
11. Postcaval ureter: right ureter passes behind the IVC; can be obstructed

12. Obstructive genitourinary defect: stenosis or atresia of the urinary tract at any
level
13. Exstrophy of the Bladder - a ventral body wall defect where the mucosa of the
bladder is exposed to the exterior, may be caused by the lack of mesodermal
migration into the region between the genital tubercle and the umbilicus
14. Urachal Fistula - the lumen of the allantois does not close; there is an abnormal
communication of the bladder to the outside via the anterior abdominal wall
15. Urachal Cyst - only a portion of the allantois remains; no communication from the
bladder to the outside
16. Urachal sinus the urachus remains open through the umbilicus, but looses its
connection to the bladder

REPRODUCTIVE
Derivatives of the genital ducts:
male high level of testosterone stimulates development of the mesonephric duct; Mullerian
inhibiting factor prevents development of paramesonephric ducts
female low level of testosterone prevents development of mesonephric ducts and no Mullerian
inhibiting factor permits development of the paramesonephric ducts
The mesonephric ducts form:
- male: epididymis, ductus deferens, seminal vesicle and ejaculatory duct
- female: epoophoron, paroophoron, Gartners duct [Gartners cyst]
The paramesonephric ducts form:
- male: appendix of testes and prostatic utricle
- female: uterine tube, uterus and superior part of vagina
External Genitalia:

after week 9 the genitalia can be distinguished as male or female!

MALE
FEMALE
UG folds
floor of urethra
labia minora
Genital swellings
scrotum
labia majora
Genital tubercle
penis
clitoris
UG sinus
urethra/prostate
urethra/vagina

1. Turners Syndrome - Chromosomal anomaly (45, XO); Germ cells degenerate after
reaching gonadal ridge; ovaries do not form, but rather ovarian streaks; Genitalia
are female but infantile
2. Hermaphrodites - a discrepancy between the morphology of the gonads and the
appearance of the external genitalia.

True hermaphrodite - true hermaphrodites are extremely rare and 70% of

them have a 46, XX chromosomal make-up. Most are raised as females and
have both testicular and ovarian tissue or an ovotestis. The phenotype may be
male or female but the external genitalia are ambiguous.

Male hermaphrodite - these individuals have a 46, XY genetic make-up. The

internal and external morphology varies and depends on the development of

the paramesonephric ducts. The defects are caused by inadequate production

of testosterone and Mullerian Inhibiting Hormone (MIF).

Female hermaphrodite - these individuals have a 46, XX genetic make-up

and results from the exposure of a female fetus to excessive levels of
androgens. The most common effects are masculinization of the external
genitalia (enlargement of the clitoris and fusion of the labia). The most
common cause is congenital adrenal hyperplasia.
3. Klinefelter Syndrome - 47, XXY and therefore male, but have small testes, tall
stature with long lower limbs and gynecomastia; intelligence will often be effected.
4. Androgen Insensitivity Syndrome (also called Testicular Feminization
Syndrome) - an extremely rare condition (1 in 20,000 live births), patients are 46, XY
but appear as normal females, the vagina ends in a blind pouch and the uterine tubes
are absent or rudimentary, the testes are usually located in the abdomen or lodged in
the inguinal canal; results from a resistance to the action of testosterone because of a
defect in the androgen receptor.
5. Hydrocele processus vaginalis doesnt close and accumulates fluid, usually
spontaneously closes in a few days
6. Cryptorchidism undescended testes
7. Congenital INDIRECT inguinal hernia intestinal loops protrude through a
persistent processus vaginalis (through the inguinal canal)
8. Uterine / Vaginal Abnormalities:

Double uterus (uterus didelphys):

Bicornate uterus

Unicornate uterus

Vaginal atresia:
9. Hypospadias external urethral opening is on the ventral aspect of the penis
10. Epispadias external urethral opening is on the dorsal aspect of the penis

HEAD AND NECK

Pharyngeal Apparatus
Clefts (Grooves) four pairs; ectoderm that forms only epithelium
The first cleft gives rise to the external auditory meatus.
The second through fourth clefts typically regress, but may persist and give rise to a cervical
sinus.
Pouches four pairs; endoderm that forms only epithelium
The first pouch gives rise to the auditory tube, mastoid antrum and tympanic cavity.
The second pouch forms the palatine tonsil.
The third pouch gives rise to the thymus and inferior parathyroid gland.
The fourth pouch gives rise to the superior parathyroid
Pharyngeal Arches There are five pharyngeal arches; mesoderm forms skeletal muscle; neural crest
grows into each arch and forms all connective tissue (cartilage, bone and blood vessels)
Derivatives of the Pharyngeal
Arches
First
Second
Nerve

CN V3

CN VII

Third
CN IX

Fourth
CN X

Sixth
CN X

muscles of
facial
stylopharyngeu muscles of
muscles of
mastication,
muscles,
s
palate,
larynx, inferior
anterior belly of
stapedius,
pharynx and
constrictor,
Muscle
digastric,
posterior
cricothyroid cricopharyngeu
s
mylohyoid, tensor
belly of
s and superior
tympani and tensor digastric
portion of
veli palatini
and
esophagus
stylohyoid
maxillary
hyoid and common and left: portion of
Pulmonary
stapedial internal carotid arch; right:
trunk (left Artery
part one of
ductus
subclavian
arteriosus)
malleus and incus
stapes,
greater horn
laryngeal
laryngeal
styloid
and inferior
cartilage
cartilage
process, portion of body
lesser horn
of hyoid
Cartila
and
ge
superior
portion of
body of
hyoid

1.

2.
3.

4.
5.
6.

Branchial Cysts/Fistula results from persistence of the pharyngeal grooves;

branchial fistulas occur when the second arch fails to grow over the third and fourth
arches. Such a defect results in the formation of a lateral cervical cyst; fistulas have
an external opening on the lateral aspect of the neck
Branchial Vestiges normally pharyngeal cartilages disappear; remnants of
cartilage or bony elements under the skin anterior to the inferior 1/3 of the
sternocleidomastoid persist
Ectopic Thyroid Tissue - The thyroid gland undergoes a migration from the oral
cavity to the neck region. It is common for remnants of thyroid tissue to remain along
the course of migration. The parathyroids also undergo a migration and are highly
variable in their location.
Thyroglossal Cysts and Sinuses - thyroglossal cysts lie in the midline of the neck
and are a tubular remnant of the thyroglossal duct.
Ectopic parathyroids:
Neural Crest - Neural crest cells are important for the development of the
pharyngeal arches. Facial defects, resulting from deficient neural crest cells, are also
accompanied by what other defects?

Treacher Collins Syndrome

genetic defect involving the first arch
variable; may have any of the following: hypoplasia of the mandible, face;
malformation of ears, eyelid defects, and faulty dentition
Pierre Robin Sequence
involves first arch
micrognathia

cleft palate
external ear defects

c. DiGeorge Anomaly Involves abnormalities of the heart, parathyroid gland, face,

and thymus gland (the degree to which the immune system is affected varies).
Affected individuals will have congenital heart disease, unusual facial features with
low-set ears, a small jawbone that recedes, wide-set eyes and are born without
parathyroid glands.
7. Acrania no calvaria, failure of neural tube to close
8. Craniosyntosis premature closure of the sutures, results in a skull with peculiar
shapes:
Scaphocephaly sagittal suture closes, skull is long and narrow
Oxycephaly coronal suture closes, skull become tall
Plagiocephaly asymmetric closure, the skull become twisted
9. Microcephaly fontanelles close early and sutures close during the first year; a CNS
defect whereby the brain and calvaria fail to grow; accompanied by severe mental
retardation
10. Choanal atresia: nasal cavity is not continuous with the pharynx, blocked by nasal
epithelium (persistent buccopharyngeal membrane?); part of the CHARGE
association:
C = coloboma of the iris, choroid
H = heart defect
A = atresia of choanae
R = retraded growth
G = genitourinary anomaly
E = ear defect
11. Microstomia excessive merging of maxillary and mandibular prominences
12. Atresia of the nasolacrimal duct 13. Clefts - common defects; result in abnormal facial appearance and
defective speech
anterior cleft
cleft lip that may involve the alveolar part of the maxilla, anterior to the
incisive foramen
deficit of maxillary prominence and intermaxillary segment
posterior cleft
involves the secondary palate and extends through the soft and hard palate
defective development of the secondary palate
mild cases involve only the uvula
cleft lip
involves only the lip and may be bilateral; occurs in various degrees
1 in 1000; 70% of cases are male
median cleft
rare; failure of medial nasal prominences to merge and form intermaxillary
segment

 characteristic of Mohr syndrome

median cleft of the lower lip
rare; failure of mandibular prominence to fuse
oblique facial cleft
from upper lip to medial margin of the orbit
14. Atresia of the external auditory meatus: blockage of the external canal
15. Congenital cholesteatoma: epidermoid tissue within the tympanic membrane
16. Congenital retinal detachment - recall that the two layers of the retina were
separated by an intraretinal space, normally, there is some degree of fusion between
these two layers; if these layers fail to fuse during development the defect is
congenital, retinal detachment can occur following a blow to the eye in which case
fluid can accumulate and vision can be impaired
17. Coloboma - This defect involves an improper closing of the choroid fissure resulting
in a gap in the iris or iris and retina.
18. Cyclopia - This defect occurs when there is fusion of the eye in the midline. Cyclopia
is indicated by a single eye; synophthalmia is indicated when there is incomplete
fusion of the eyes. Cyclopia results from a defect involving midline structures and is
accompanied by other defects and is incompatible with life. Cyclopia is often
accompanied by a midline proboscis that is situated superior to the fused eye.
19. Microphthalmia - indicated by a small, normal appearing eye or an eye that was
arrested at some point during normal development; may lack a lens
20. Anophthalmia - indicated by the congenital absence of eye tissue, can vary in
severity can involve only the optic stalk or may involve development of the
forebrain
21. Persistent pupillary membrane - the pupillary membrane normally covers the
anterior surface of the lens and disappears during development, this membrane may
remain as strands of connective tissue spanning the pupil, rarely will interfere with
vision
22. Congenital glaucoma - glaucoma is any increase in the intraocular pressure, occurs
congenitally when there is a defect in the draining mechanism (scleral venous sinus),
may arise in relation to a rubella infection during pregnancy
23. Congenital cataract - any lens opacity present at birth; can be progressive so may
not be identified at birth; can be caused by infection (rubella, chicken pox, herpes) or
genetic
24. Aniridia: absence of the iris; defect involving neuroectoderm and neural crest cells
25. Color of the iris: the iris is typically blue/gray in most newborns; definitive
pigmentation is acquired by 8-10 months
26. Congenital aphakia absence of the lens
27. Congenital ptosis what could cause this?
28. Minor deformities of the external ear are common and often accompany other
anomalies:
Anotia: absence of an ear
Microtia: small ear; absence of auricular hillocks
The persistence of extra auricular hillocks is called auricular appendages

Preauricular sinuses are small depressions located anterior to the auricle;

results from abnormal closure of the first pharyngeal groove
Atresia of the external auditory meatus: blockage of the external canal
Congenital cholesteatoma: epidermoid tissue within the tympanic membrane
Congenital fixation of the stapes:

INTEGUMENT
1. Ichthyosis - results from excessive keratinization of the skin, whereby the skin
appears as very dry and scaly; a harlequin fetus has an extreme form of this disorder
where the skin is abnormally thick and cracked; they typically die within a week of
birth; a collodion infant is covered in a thick membrane that cracks and eventually
is shed revealing normal skin
2. Angiomas - not true tumors but may appear as a mass within the skin, result from
the persistence or surplus of blood or lymphatic vessels; Nevus flammeus refers to a
flat pink or red blotch that appears on the posterior aspect of the neck; a
hemangioma (port wine stain) also appears red but is found on the face.
3. Albinism - results when the melanocytes fail to produce melanin and the skin, hair
and retina lack pigment
4. Supernumery nipples - extra nipples or even breast can form anywhere along the
milk lines and are fairly common (approximately 1% of the population)
5. Inverted nipples
6. Congenital alopecia absence of loss of hair
7. Hypertrichosis excessive hairiness; localized hypertrichosis is associated with
spinal bifida occulta
8. Amelogenesis Imperfecta - in this condition the enamel is improperly formed and
is soft and friable and the teeth are yellow or brown because of exposed dentin;
dentinogenesis imperfecta is a common condition where the odontoblasts fail to
differentiate and dentin is not calcified
9. Discolored teeth - certain chemicals can be incorporated into the dentin during
tooth development; tetracycline administered during pregnancy can cause the teeth
to become yellowish-brown; in erythroblastosis fetalis there is free hemoglobin that
can be incorporated into the enamel and cause a black discoloration of teeth

Changes at Birth
umbilical arteries
paired medial umbilical ligaments
umbilical veins round ligament of liver
urachus
median umbilical ligament
foramen ovale fossa ovalis
ductus arteriosus
ligamentum arteriosum
ductus venosus ligamentum venosum

Miscellaneous
Stem villi
mesoderm
Intervillous space

form from trophoblast and somatic layer of extraembryonic

contains maternal blood