Kallmann syndrome presenting as congenital ptosis in brothers.

摘要

Writing in these pages, Madasseri er 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. Neurological examination was otherwise normal and endocrine assessment, undertaken for the clinical finding in both boys of a small scrotum, was normal. The younger brother showed bilateral supernumerary nipples, not present in his elder sibling. Parental examination and sibling examination for ptosis was normal. No diagnosis was forthcoming on investigation and the authors were unable to identify the exact cause of the malformations. The possibility was raised of a new x-Iinked phenotype of congenital ptosis and esotropia. The patients have recently been reviewed and a diagnosis identified.