Barber-Say Syndrome: report of a new case.
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.
Mazzanti
L
L
1st Pediatric Clinic, University of Bologna, Italy.
Bergamaschi
R
R
Neri
I
I
Perri
A
A
Patrizi
A
A
Cacciari
E
E
Forabosco
A
A
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001940:Breast / Q000002:abnormalities; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007805:Language Development Disorders; D011596:Psychomotor Disorders; D013577:Syndrome; D014706:Verbal Learning