Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature.
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 head 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.
Frydman
M
M
Department of Pediatrics, Hasharon Hospital, Petah Tiqwa, Israel.
Cohen
H A
HA
Karmon
G
G
Savir
H
H
D000293:Adolescent; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D004948:Esotropia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics