Optiz trigonocephaly syndrome: report of two cases.
We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome