HIGH YIELD EMBRYOLOGY

EARLY EMBRYOLOGY
Teratogen 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 substance affecting migration, proliferation or interaction of cells; an environmental cause of congenital anomalies pruning of the sperm glycocalyx; permits the sperm-oocyte

1. 2.

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 3. Placental abruption placenta becomes disconnected from the uterine wall 4. Placenta accreta the placenta adheres to the myometrium 5. Placenta percreta penetrates the full thickness of the myometrium and fails to separate from the uterine wall 6. 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) 7. 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. 8. Holoprosencephaly results from the death of midline cells (alcohol) causes a deficiency of midline head structures 9. Situs inversus

Complete all organs are a mirror image of normal Incomplete only a single organ is involved (e.g. heart) 10. Sirenomelia caudal dysgenesis resulting from inadequate mesoderm in caudal regions limb defects, urogenital defects 11. Sacrococcygeal teratoma results from the persistence of the primitive streak and pluripotent cells 1 in 37,000

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
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. Laryngotrachesophageal cleft: the larynx/trachea fail to completely separate from the esophagus; distinguished from fistulas by aphonia Tracheal diverticulum: a blind pouch projecting from the trachea 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 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 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. Ectopic Lung Tissue - results from lobes of lung tissue arising from the trachea or esophagus. 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] Accessory Lung: extra lung tissue, found usually along the base of the left lung but does not receive pulmonary vessels (instead gets systemic circulation) 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 biventriulare 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 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. Accessory renal arteries common; resulting from the ascent of the kidney; can obstruct a ureter and cause hydronephrosis 3. 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 4. Renal Agenesis - occurs when the ureteric bud fails to reach the metanephric mesoderm; associated with oligohydramnios; bilateral = incompatible with life 5. 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: 6. Horseshoe Kidney - during development the metanephric mesoderm fuses while in the pelvis, normal ascent is stopped by the inferior mesenteric artery. 7. Bifid Ureter: occurs when the ureteric bud divides prematurely. This is a fairly common disorder and the severity varies considerably. 8. Ectopic ureter - an ectopic ureter opens anywhere except into the urinary bladder (commonly into more inferior parts of the urinary tract urethra). 9. Megaloureter: enlarged ureter with no motility; prone to infection 10. Postcaval ureter: right ureter passes behind the IVC; can be obstructed 11. Obstructive genitourinary defect: stenosis or atresia of the urinary tract at any level 12. 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 13. 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 14. Urachal Cyst - only a portion of the allantois remains; no communication from the bladder to the outside 15. 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

Third Fourth Sixth CN V3 Nerve CN VII CN IX CN X CN X muscles of facial stylopharyngeu muscles of muscles of mastication, muscles, s palate, larynx, inferior anterior belly of stapedius, pharynx and constrictor, digastric, posterior cricothyroid cricopharyngeu Muscles mylohyoid, tensor belly of s and superior tympani and digastric portion of tensor 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 Cartilag and e superior portion of body of hyoid

1. 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 2. 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

3. 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. 4. Thyroglossal Cysts and Sinuses - thyroglossal cysts lie in the midline of the neck and are a tubular remnant of the thyroglossal duct. 5. Ectopic parathyroids: 6. 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?

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 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. Albinism - results when the melanocytes fail to produce melanin and the skin, hair and retina lack pigment Supernumery nipples - extra nipples or even breast can form anywhere along the milk lines and are fairly common (approximately 1% of the population) Inverted nipples Congenital alopecia absence of loss of hair Hypertrichosis excessive hairiness; localized hypertrichosis is associated with spinal bifida occulta 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 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

2.

3. 4. 5. 6. 7. 8.

9.

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