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

[摘要] BackgroundGoltz 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 Presentationa 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.ConclusionsFDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.

[发布日期] 2010-11-19

[关键词] Syndactyly;Ectropion;Microphthalmia;Aniridia;Optic Nerve Hypoplasia