BMC Ophthalmology 2010-Nov
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report.
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Keywords
Abstract
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.
METHODS
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 macules on the left side of the face, chest, abdomen and limbs. Characteristic lobster claw deformity of left hand and oligodactyly and syndactyly of left foot were present.
CONCLUSIONS
FDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.
