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					   Presented By:
Dr . Safa El Hassan
Name : ‫المقدام أحمد سالم‬
Sex : Male
Age : 5 ½ months
Tribe : ‫كبابيش‬
Origin : ‫رومي البكري‬
Residence : ‫المزاد‬
Informant : His mother
C/O:
Abnormal features since birth
H.P.I:
• Regular antenatal follow up.
• No history of fever, skin rash, DM
or hypertension.
• Not exposed to radiation or
received drugs.
• U/S was performed at 24 & 38
wks gestation.
• Pregnancy ended by elective
caesarian section at term.
• Admitted to the nursery for the
1st 3 days of life.
• On the 4th day of life the mother
saw her child & breast feeding was
started    with     difficulties, then
shifted to expressed breast milk &
formula milk by special teat.
• Passed urine and meconium
within the 1st 24 hrs.
• No history of cyanosis, breathing
difficulties, vomiting or jaundice.
• He has repeated attacks of chest
infection.
SR :

GIT
UGS
CNS
Milestones

Social smile     : 3 months
Head support     : 4 months
Sat with support : 5 months
Can follow object
Response to voice


Vaccination:
Fully vaccinated according to EPI.
  F.H:




• No family history of similar condition.
Social History:

Drug History:
O/E:
* Looks unwell, not pale, jaundiced
or cyanosed. There was noisy
breathing.

  PR 122/min
  RR 36/min
  Temp 36.4C
Anthropometrics measurements
Wt 5.5kg   < 5th
Length 67cm    = 25th
HC 43.5cm      = 50th
There is apparent dysmorphic features.(Show)
Mean anterior fontanelle size 9.25cm > 97th.
Inner canthal distance 3cm   > 97th.
Outer canthal distance 9.5cm   > 97th.
CVS
                             NAD
Chest
Abdomen (anus & genitalia)


Musculoskeletal : No joint stiffness or
back deformity.
Denever developmental assessment.
Investigations:
 •   Complete hemogram.
 •   Urine analysis.
 •   Renal function test.
 •   CXR. (Show)
 •   Skull & cervical x-ray.(Show)
 •   Hands & feet x-ray.(Show)
 •   Abdominal U/S.
 •   Cerebral U/S.
 •   Echocardiography.
 •   MRI. (Show)
•Apert is French physician who described
the syndrome in 1906.
•Characterized     by     craniosynostosis,
craniofacial    anomalies      &    severe
symmetrical syndactyly of the hands &
feet.
•The majority > 98% of new cases are
sporadic, resulting from new mutations
with paternal age effect.
•Rarely autosomal dominant disorder.
•Defect on chromosome 10.
•FGFR2 mutation.
•The coronal sutures close prematurely &
the lambdoidal sutures appear normal in
all cases.
•Accounts    for    4.5%    of   all   cases   of
craniosynostosis.
•Asians have the highest prevalence.
•No sexual predilection exists.
•Many       patients        exhibit      mental
retardation, though patients with normal
intelligence have been reported.
•Recurrence        risk    for   an     affected
individual to have an affected offspring is
50%.
•Recurrence risk for unaffected parents
is negligible.
•Associated abnormalities.

   CNS malformation.

   Other   skeletal    &    cartilaginous
  segmentation defects.

   Skin.

   CVS 10%.

   Genitourinary 9.6%.

   GIT 1.5%.

   Respiratory 1.5%.
•Treatment is multidisplinary needs:

   Medical care.

   Surgical care.

   Consultations.

				
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