title: Focal skin defect, limb anomalies and microphthalmia.
abstract: We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have not been reported with single focal aplasia of the skin. The described features may be compatible with a mild phenotypic variant of Goltz syndrome or may represent a previously undescribed syndrome.
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary Department of Pediatrics, UMC Nijmegen, the Netherlands Hayward Genetics Center, Tulane University School of Medicine, New Orleans, USA.
authors.forename: Éva
authors.initials: É
authors.lastname: Morava
authors.forename: Kelly E
authors.initials: KE
authors.lastname: Jackson
authors.forename: Hans C
authors.initials: HC
authors.lastname: Andersson
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000473:pathology*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D008850:Microphthalmos / Q000473:pathology*; D011859:Radiography; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging