Patient Status

Name

: PN

Age

: 3 years old

Sex

: Female

Address

: Kersan, Weru, Sukoharjo

No. RM

: 01-22-45-09

CHIEF COMPLAINT
Deformities of hand and feet

CURRENT HISTORY
Patient was a refered patient from pediatric department
with Apert Syndrome. the main complaint of this patient
is deformities of hand and feet. The deformity suffered by
patient since birth. Mother of patient admit, there were
no complaint during pregnancy and she control of
pregnancy every month.

PREVIOUS HISTORY

Operation history (-)

Same complaint (-)
Alergic history (-)

FAMILY HISTORY

Same complaint (-)

SISTEMIC ANAMNESIS
Eyes

: exopthalmus (+/+)

Ear

: normal

Mouth

: normal

Respiration system : normal

Cardiovasculer system : normal
Gastrointestinal system

: normal

Muskuloskeletal system

: normal

Genitourinaria system : normal

Physical Examination
General status : Compos mentis, GCS E4V5M6,
Vital sign :

BP : 120/80 mmHg
N : 92 x/minute, regular,
RR

: 22 x/minute

T : 36.8o C per axillar

GENERAL SURVEY
Head : Macrocephal
Eyes : Conjungtiva anemis (-/-), sclera icteric (-/-),
eksopthalmus
(+/+)
Nose : Deviation of septum (-), discharge (-)
Ear
: Discharge (-/-), blood (-/-)
Mouth : normal
Neck: normal
Thorax : normochest, retraction (-)

GENERAL SURVEY
Thorax
Inspection

: movement of hemithorax symetric

dextra sinistra, ictus cordis is not

visible
Palpation : fremitus tactil symetric dextra

sinistra
Percusion : sonor/sonor, heart border normal
Auscultation

: vesicular (+/+) normal, additional

sound (-/-), heart sound normal,

regular, abnormal sound (-)

GENERAL SURVEY
Abdomen
Inspection

: distended (-)

Auscultation : bowel sound (+) normal

Percusion : tympanic
Palpation : pain (-),
Genitourinaria

: normal

Musculoskeletal : normal
Extremity : normal

LOCAL STATUS
Upper extremity
Inspection : Syndactily (+/+)
Lower extremity
Inspection : Syndactily (+/+)

ASSESMENT I
Syndactily e.c Syndrome Apert

PLANNING I
Blood examination
Cervical X-ray
Thoracolumbal X-ray
CT Scan non contrast of head
Head X-ray
Thorax X-ray
Inf NaCl 0.9 % 1500 cc/ 24 hours

Blood test
Hemoglobin

12.0

g/dL

12.0 - 15.6

Hematocrit

38

33 - 45

Leucosit

7.9

thousand/l

4.5 - 11.0

Trombosit

294

thousand/l

150 - 450

Eritrosit

5.08

million/l

4.10 - 5.10

Albumin

5.1

g/dl

3.8 - 5.4

Natrium blood

134

mmol/l

136 - 145

Kalium blood

4.4

mmol/l

3.3 - 5.1

Chlorida blood

106

mmol/l

98 - 106

Radiology
CT Scan non-contrast of head (8 April 2016)
Major fontanelle is still open
At Scano: brachiocephaly type of head shape

Radiology
Cervical X-ray(February 25, 2016)
Photos cervical abnormalities not visible

Radiology
Thoracolumbal X-ray (3 April 2016)
normal

Radiology
Head X-ray (February 25, 2016)
Supports picture Apert Syndrome

Radiology
Thorax X-ray (1 April 2016)
Pneumonia

ASSESMENT II
Syndactily e.c Syndrome Apert

PLANNING II
Pro reconstruction of hand
Pro reconstruction of foot

DEFINITION
Apert syndrome is named for the French physician who
described the syndrome acrocephalosyndactylia in
1906.
Apert syndrome is a rare autosomal dominant disorder
characterized
by
craniosynostosis,
craniofacial
anomalies,
and
severe
symmetrical
syndactyly
(cutaneous and bony fusion) of the hands and feet

PATHOPHYSIOLOGY
In 1995, the molecular etiology of Apert syndrome was
first defined when it was reported that one or the other
of two specific point mutations, Ser252Trp or Pro253Arg,
in fibroblast growth factor receptor 2 (FGFR2) located on
chromosome 10q26
The significance of the FGFR signaling pathway in
skeletal development is further underscored by the
numerous disorders resulting from FGFR mutations,
such as the chondrodysplasiaand craniosynostosis
syndromes

PATOPHYSIOLOGY
It was shown that both Ser252Trp and Pro253Arg
mutations in FGFR2c resulted in enhanced binding to
FGF2 and many other fibroblast growth factors
expressed in the cranial suture
the Ser252Trp mutation displayed a greater increase in
affinity over the Pro253Arg mutation for most FGF
ligands. This correlated well with the more severe
craniofacial phenotype in Ser252Trp Apert syndrome
patients
The binding affinity of each Apert syndrome mutant
FGFR2c to FGF10 (Pro253Arg -> Ser252Trp) mirrored the

CLINICAL FINDING (SKULL AND

FACE)
With craniosynostosis, coronal sutures most commonly are involved,
resulting in acrocephaly, brachycephaly, turribrachycephaly, flat
occiput, and high prominent forehead.
other characteristics include the following:

Large late-closing fontanels are observed

A gaping midline defect is present
A rare cloverleaf skull anomaly is present in approximately 4% of infants
Common facial features during infancy include horizontal grooves above the
supraorbital ridges that disappear with age, a break in the continuity of the
eyebrows, and a trapezoid-shaped mouth at rest
A flattened, often asymmetrical face is observed
Maxillary hypoplasia with retruded midface is present

CLINICAL FINDING (EARS, EYES,

NOSE, MOUTH)
Patients have apparent low-set ears with occasional
conductive hearing loss and congenital fixation of stapedial
footplate.
Eyes
exhibit
down-slanting
palpebral
fissures,
hypertelorism, shallow orbits, proptosis, exophthalmos,
strabismus, amblyopia, optic atrophy, and, rarely, luxation
of the eye globes, keratoconus, ectopic lentis, congenital
glaucoma, lack of pigment in the fundi with occasional
papilledema, and preventable visual loss or blindness.

CLINICAL FINDING (EARS, EYES,

NOSE, MOUTH)
The nose has a markedly depressed nasal bridge. It is
short and wide with a bulbous tip, parrot-beaked
appearance, and choanal stenosis or atresia.
The mouth area has a prominent mandible, down-turned
corners, high arched palate, bifid uvula, and cleft palate.

CLINICAL FINDING (EXTREMITIES

AND DIGITS)
The upper limbs are more severely affected than lower limbs.
Coalition of distal phalanges and synonychia found in the hands is
never present in the feet. The glenohumeral joint and proximal
humerus are more severely affected than the pelvic girdle and
femur
Syndactyly involves the hands and feet with partial-to-complete
fusion of the digits, often involving second, third, and fourth
digits. These are often termed mitten hands and sock feet. In
severe cases, all digits are fused, with the palm deeply concave
and cup-shaped and the sole supinated.

CLINICAL FINDING (CNS)

Intelligence varies from normal to mental deficiency, although a
significant number of patients are mentally retarded.
Malformations of the central nervous system (CNS) may be
responsible for most cases.
Common CNS malformations include megalencephaly, agenesis of
the corpus callosum, malformed limbic structures, variable
ventriculomegaly, encephalocele, gyral abnormalities, hypoplastic
cerebral white matter, pyramidal tract abnormalities, and
heterotopic gray matter
Papilledema and optic atrophy with loss of vision may be present
in cases of subtle increased intracranial pressure.

CLINICAL FINDING (SKIN)

Cutaneous characteristics include the following:
Hyperhidrosis (common)
Synonychia
Brittle nails
Acneiform lesions (frequent after adolescence)
Interruption of the eyebrows
Hypopigmentation
Hyperkeratosis in the plantar surface
Paronychial infections (more common in feet than hands and in patients who
are institutionalized patients)
Excessive skin wrinkling of forehead
Skin dimples at knuckles, shoulders, and elbows

CLINICAL FINDING
(CARDIOVASKULAR)
Cardiovascular characterstics include the following:
Atrial septal defect
Patent ductus arteriosus
Ventricular septal defect
Pulmonary stenosis
Overriding aorta
Coarctation of aorta
Dextrocardia
Tetralogy of Fallot

CLINICAL FINDING
(GENITOURINARY)
Polycystic kidneys
Duplication of renal pelvis
Hydronephrosis
Stenosis of bladder neck
Bicornuate uterus
Vaginal atresia
Protuberant labia majora
Clitoromegaly
Cryptorchidism

CLINICAL FINDING
(GASTROINTESTINAL)
Gastrointestinal (GI) characteristics (1.5%) include the
following:
Pyloric stenosis
Esophageal atresia and tracheoesophageal fistula
Ectopic or imperforate anus
Partial biliary atresia with agenesis of gallbladder

CLINICAL FINDING (RESPIRATORY)

Respiratory characteristics (1.5%) include the following:
Anomalous tracheal cartilage
Tracheoesophageal fistula
Pulmonary aplasia
Absent right middle lobe of lung
Absent interlobular lung fissures

Laboratory Studies
Molecular analysis of Apert syndrome
The molecular mechanism is exquisitely specific with a
narrow mutational spectrum.
More than 98% of cases are caused by specific
missense substitution mutations, involving adjacent
amino acids (Ser252Trp, Ser252Phe, or Pro253Arg) in
exon 7 of FGFR2.
The remaining cases are due to Aluelement insertion
mutations in or near exon 9.

Imaging Studies
Skull radiography
Skull radiography can be performed to evaluate for
craniostenosis, which usually involves coronal sutures
and maxillary hypoplasia.
Abnormalities include sclerosis of suture line, bony
bridging and beaking along the suture line, an indistinct
suture line, turribrachycephaly, shallow orbits, and
hypoplastic maxillae.

Spinal radiography
Spinal fusions, most commonly at the levels of C34 and C5
6, appear to be progressive and occur at the site of subtle
congenital anomalies. They may not be apparent as
congenital features.
Smallsized vertebral body and reduced intervertebral disc
space are indicators of subsequent bony fusion

Hand radiography
Radiography of the hands can be performed to evaluate for cutaneous
and osseous syndactyly.
The characteristic finding is complete syndactyly involving the second
and fifth digits (mitten hands).
Multiple progressive synostosis involves distal phalanges, proximal
fourth and fifth metacarpals, capitate, and hamate.
Symphalangism of interphalangeal joints is progressive.
Radiography of the distal phalanx reveals shortened and radial
deviation.
Radiography of the proximal
deltashaped deformity

phalanx

of

the

thumbs

reveals

Foot radiography
Radiography of the feet can be performed to evaluate
for
cutaneous
and
osseous
syndactyly.
The
characteristic finding is complete syndactyly involving
the second and fifth digits (sock feet).
Fusion of tarsal bones, metatarsophalangeal
interphalangeal joints, and adjacent metatarsals

and

Deltashaped proximal phalanx of the first toes

Occasional partial or complete duplication of the
proximal phalanx of the great toes and first metatarsals

CT scanning
CT with comparative 3dimensional reconstruction
analysis of the calvaria and cranial bases has become
the most useful radiological examination in identifying
skull shape and presence or absence of involved
sutures.
CT can precisely reveal the pathological anatomy and
permit specific operative planning.

MRI
MRI reveals the anatomy of the softtissue structures and
associated brain abnormalities (ie, nonprogressive
ventriculomegaly hydrocephalus complete or partial
absence of the septum pellucidum absence of septal
leaflets and thinning, deficiency, or agenesis of the
corpus callosum).
MRI can also reveal spatial arrangement of the bones.

Apert Syndrome Treatment &

Management

Medical Care
Protection of the cornea
Instill lubricating bland ointments in the eyes at bedtime to protect
corneas from desiccation
Artificial teardrops during the day
Upper airway obstruction during the neonataperiod
Remove excessive nasal secretions
Treat upper airway infection
Humidification with added oxygen Judicious use of topic nasal
decongestants

Sleep apnea
Polysomography (a sleep recording of multiple physiologic variables), currently
the most reliable method for determining the presence of sleep apnea
Continuous positive pressure
Chronic middle ear effusion associated with bilateral conductive hearing deficit
Antimicrobial therapy
Psychological and social challenges confronted by individuals with Apert
syndrome
Emotional adjustment
Body image development
Impact of surgery and hospitalization on children with Apert syndrome

Surgical Care
Protection of the cornea: Lateral or medial tarsorrhaphy is
performed in severe cases to narrow the palpebral fissure
cosmetically and to protect the corneas and the vision.
Upper airway obstruction during the neonatal period: This
rarely requires orotracheal intubation.
Sleep apnea: Tracheostomy is indicated in severely affected
children.
Chronic middle ear effusion associated with bilateral conductive
hearing deficit: Bilateral myringotomy and placement of
ventilation tubes are the most effective treatment.

Cranial surgery
Removes synostotic sutures
Reshapes the calvaria
Allows more normal cranial development to proceed
with respect to shape, volume, and bone quality
Relieves increased intracranial pressure

Orbital surgery
Correction of ocular proptosis
Reduction
of
increased
(hypertelorism)

interorbital

Correction of increased interior malrotation

distance

Nasal surgery
Infants and children: Nasal reconstruction focuses on
correction of the excessively obtuse nasofrontal angle,
flat nasal dorsum, and ptotic nasal tip.
Teenagers and adults: Reduction of the nasal tip bulk is
indicated

Midfacial surgery
Normalization of midface appearance
Expansion of the inferior orbit
Volumetric expansion of the nasal and nasopharyngeal
airways
Establishment of a normal dentoskeletal relationship