Congenital ptosis with esotropia in brothers

Abstract

Two brothers are reported with congenital ptosis and esotropia, one of whom also has polythelia. This particular constellation of clinical features has not previously been described, although comparison with recorded families does show significant overlap with the pedigree reported by Frydman et al.

Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis

“…In 2002, there has been a report of two brothers having congenital ptosis with esotropia with a pedigree similar to that reported by Frydman et al; however, unlike FCKS both had undescended testis and one had polythelia. 4 To our knowledge, this is the first reported case of FCKS in Asia.…”

Kallmann syndrome presenting as congenital ptosis in brothers

“…Writing in these pages, Madasseri et al, (2003) reported brothers, aged 7 and 1 years at the time of examination who presented with congenital ptosis and esotropia. No developmental concerns were noticed.…”