Pre and post axial polysyndactyly, microcephaly and ptosis.
A five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1. To our knowledge, a similar case has not been reported previously.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001763:Blepharoptosis / Q000150:complications*; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000150:complications*; D011596:Psychomotor Disorders / Q000150:complications; D013576:Syndactyly / Q000150:complications*