Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report

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Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...

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Focal dermal hypoplasia (Goltz) syndrome with multiple family member involvement: A case report

Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...

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Focal dermal hypoplasia (Goltz syndrome)

The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual feature...

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Focal dermal hypoplasia. Goltz syndrome. A case report.

Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal origin. As a result, there are abnormalities of the eyes, skin, oral structures, musculoskeletal system and central nervous system. This article describes the case of a four-year-old female with focal dermal hypoplasia (FDH) who displayed many of the oral featur...

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ژورنال

عنوان ژورنال: BMC Ophthalmology

سال: 2010

ISSN: 1471-2415

DOI: 10.1186/1471-2415-10-28