Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.
The association of scalp defect, unusual ears and absence of nipples was described by Finlay & Marks as an autosomal dominant trait. We report a new case in a 23-year-old woman. Renal insufficiency and cataract seem to be frequent and must be investigated.
Plessis
G
G
Service de Génétique, CHU Clémenceau, Caen, France.
Le Treust
M
M
Le Merrer
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009558:Nipples / Q000002:abnormalities*; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics