Waardenburg syndrome type III (WS-III) or Klein-Waardenburg syndrome.
Incidence
A few patients have been described. An autosomal dominant inheritance pattern for this syndrome was suggested.
Clinical Characteristics
A few patients with the characteristic features of WS type I and upper limb defects have been described. This association is referred to as WS type III or Klein-Waardenburg syndrome. These patients typically have the pigmentary and craniofacial features of WS-I in combination with a myoosteoarticular defect of the upper limbs and pectoral region. Musculoskeletal hypoplasia, rigidity of joints, axillary webs, and camptodactyly were observed. An autosomal dominant inheritance pattern for this syndrome was suggested.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Clinical diagnosis.