Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.
We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome.
Marble
Michael
M
Human Genetics Program, Hayward Genetics Center and Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA. mmarble@bellsouth.net
Pridjian
Gabriella
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009558:Nipples / Q000002:abnormalities*; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome