Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changesa possible new autosomal recessive disorder

摘要

NA;A 20hyphen;yearhyphen;old male is described with craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly and skeletal changes. On the basis of the clinical and radiological differences with syndromes previously described we classify the present case as a new faciothoracoskeletal syndrome. Parental consanguinity supports autosomal recessive inheritance.