Publication Date:
1998
Short description:
Barber-Say syndrome: Report of a new case / Mazzanti, L; Bergamaschi, R; Neri, Isabella; Perri, A; Patrizi, A; Cacciari, E; Forabosco, Antonino. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 78:(1998), pp. 188-191. [10.1002/(SICI)1096-8628(19980630)78:2<188::AID-AJMG19>3.0.CO;2-J]
abstract:
We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands, To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS), BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve the same structure of the skin and adnexa, We hypothesize that they may derive from a defective regulation of the same gene. Am. J, Med. Genet, 78:188-191, 1998.
Iris type:
Articolo su rivista
Keywords:
lax; redundant; senile skin; hypertrichosis; ectropion
List of contributors:
Mazzanti, L; Bergamaschi, R; Neri, Isabella; Perri, A; Patrizi, A; Cacciari, E; Forabosco, Antonino
Published in: