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.
- Focal dermal hypoplasia
- Limb malformation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine