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


1 Department of Skin and VD, SCBMCH, Cuttack, Odisha, India
2 Department of Skin and VD, Hitech MCH, Bhubaneswar, Odisha, India

Correspondence Address:
Bharati Sahu,
Niki Skin Care, Anadi Bhaban, Ranihat, Cuttack - 753 001, Odisha
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.184426

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.


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    -  Sahu B
    -  Samal SR
    -  Mohanty P
    -  Puhan MR
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