Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature

Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature. Clin Genet 1992:41:57–61. A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline bead circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.