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

• Váldodahkkit: Bharati Sahu (Dahkki), Smita Rani Samal (Dahkki), Prasenjeet Mohanty (Dahkki), Manas Ranjan Puhan (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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. W...