Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation.
We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and psychomotor retardation. Differential diagnosis, such as the Ohdo syndrome, the Morillo-Cucci syndrome, the Marden-Walker-like syndrome, and the Frydman syndrome and discussed.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban.
Farah
C B
CB
Nabbout
R
R
D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome