Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy

Abstract

Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. We report a case of a 7-month-old female child with typical clinical features of Goltz syndrome with some unusual findings such as severe abdominal dehiscence, bladder exstrophy, and absence of the fifth metacarpal and distal phalanx.

Keywords

• Bladder exstrophy
• Goltz syndrome
• osteopathia striata
• syndactyly