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.
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.
Barber-Say syndrome: Report of a new case
NERI, Isabella;FORABOSCO, Antonino
1998
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.
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