Laryngeal web, congenital heart disease and low stature. A syndrome?
Congenital laryngeal web, congenital heart disease, and low stature occurred in a 23-year-old woman. The patient was a member of a family in which several members were similarly affected. This triad of congenital anomalies is a syndrome that has not been previously reported. The pattern of inheritance of this syndrome is compatible with an autosomal dominant gene.
D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D007830:Larynx / Q000002:abnormalities*; D013577:Syndrome