Char syndrome: an additional family with polythelia, a new finding.
This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome.
Zannolli
R
R
Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
Mostardini
R
R
Matera
M
M
Pucci
L
L
Gelb
B D
BD
Morgese
G
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001940:Breast / Q000002:abnormalities; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D004374:Ductus Arteriosus, Patent / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009558:Nipples / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*