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 36.4C 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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