ABSTRACT
We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.
Subject(s)
Abnormalities, Multiple/genetics , Genes, Recessive , Child , Consanguinity , Developmental Disabilities/genetics , Failure to Thrive/genetics , Female , Humans , Hypertelorism/genetics , Male , Nipples/abnormalities , Polydactyly/genetics , Sclera/abnormalities , Skin Abnormalities/genetics , Skull/abnormalities , SyndromeABSTRACT
Benign thyroid disease is a risk factor for nonmedullary thyroid carcinoma [Houlston and Stratton: Q J Med 88:685-693, 1995]. We report on a family with 7 members with benign and/or malignant thyroid neoplasia; one affected female died of a paravertebral alveolar rhabdomyosarcoma at age 20. The occurrence of thyroid nodular hyperplasia, nonmedullary thyroid cancer, and rhabdomyosarcoma in the same family may be due to chance, common environmental factors, or, most likely, genetic predisposition.
