Agha Shabbir Ali.
Opitz Trigonocephaly Syndrome.
Pak Paed J Jan ;20(2):91-2.

This 8 month old boy presented with developmental delay since birth Born by SVD following full term unremarkable pregnancy, he is not able to sit and neck holding has just begun. A.S had two episodes of generalised seizures one at 5 months age and the other 4 days earlier. He is 3rd issue from consangumously married couple Eldest is 7 years old school boy and the middle one is a 4 years old active healthy girl. Examination revealed thin built boy with length dose to 25th, weight and head circumference below 3rd percentile for his age. Skin was loose especialy over the extremities and at the neck Elbow & knee joints had limitation of extension while small joints of hands & feet were increasingly mobile. Cranium was narrowed towards top and triangular in appearance with bitemporal depressions. Nasal root was broad and low set. There was bilateral buplithalmos with mongoloid slant of palpebral fissures and wide epicanthic folds. External ears had prominent folds and bilateral preauricular dimples. Palate was high arched and narrowed anteriorly. Neck was short with loose skin folds. Precordial examination revealed evidence of Ventricular Septal Defect. These multiple dysmorphic features are consistent with a diagnosis of Opitz Trigonoceplialy Syndrome.

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