Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome.
Bilateral absence of nipples is an exceptional defect. We report the second family with the association of scalp defect, abnormally shaped ears and absence of nipples described by Finlay as an autosomal dominant trait.
Le Merrer
M
M
Unité de Recherches sur les handicaps Génétiques de l'Enfant INSERM U12, Hôpital Necker-Enfants Malades.
Renier
D
D
Briard
M L
ML
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000367:Age Factors; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009558:Nipples / Q000002:abnormalities*; D011247:Pregnancy; D012535:Scalp / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography