Dr . Safa El Hassan
Name : المقدام أحمد سالم
Sex : Male
Age : 5 ½ months
Tribe : كبابيش
Origin : رومي البكري
Residence : المزاد
Informant : His mother
Abnormal features since birth
• Regular antenatal follow up.
• No history of fever, skin rash, DM
• Not exposed to radiation or
• U/S was performed at 24 & 38
• 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
Social smile : 3 months
Head support : 4 months
Sat with support : 5 months
Can follow object
Response to voice
Fully vaccinated according to EPI.
• No family history of similar condition.
* Looks unwell, not pale, jaundiced
or cyanosed. There was noisy
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.
Abdomen (anus & genitalia)
Musculoskeletal : No joint stiffness or
Denever developmental assessment.
• 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.
• MRI. (Show)
•Apert is French physician who described
the syndrome in 1906.
•Characterized by craniosynostosis,
craniofacial anomalies & severe
symmetrical syndactyly of the hands &
•The majority > 98% of new cases are
sporadic, resulting from new mutations
with paternal age effect.
•Rarely autosomal dominant disorder.
•Defect on chromosome 10.
•The coronal sutures close prematurely &
the lambdoidal sutures appear normal in
•Accounts for 4.5% of all cases of
•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
•Recurrence risk for unaffected parents
Other skeletal & cartilaginous
•Treatment is multidisplinary needs: