Barber-Say syndrome: Report of a new case

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.

Autosomal dominant inheritance of Barber-Say syndrome

“…Sod et al [1997] described a patient with most of the findings of Barber-Say syndrome who had less severe facial involvement without lower lid ectropion. Recently, Mazzanti et al [1998] described a girl with Barber-Say syndrome and absence of the mammary glands, an observation that further supported the concept of abnormal ectoderm development as the mechanism underlying the redundant and atrophic skin, deficient hair growth (eyebrows and eyelashes), excessive hair growth (hirsutism of forehead and back), and hypoplastic or absent nipples.…”

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

“…5,6,11,19,20,24 BSS is characterized by The American Journal of Human Genetics 97, 1-12, July 2, 2015 3 ectropion, macrostomia, ear abnormalities, bulbous nose with hypoplastic alae nasi, redundant skin, hypertrichosis, and variable other features. 14,16,21,23,25,26 Several instances of parent-to-child transmission suggest that both AMS and BSS are inherited in an autosomal-dominant fashion, 2,8,9,21,22 but no specific gene defect has been associated with these disorders. The substantial phenotypic overlap between AMS and BSS, as well as a shared mode of inheritance, supports the hypothesis that the two disorders are caused by dominant mutations in the same gene.…”

“…The substantial phenotypic overlap between AMS and BSS, as well as a shared mode of inheritance, supports the hypothesis that the two disorders are caused by dominant mutations in the same gene. 10,15,16 We employed extensive clinical phenotyping, exome sequencing, and expression studies to determine the genetic basis for AMS and BSS. We show that both AMS and BSS are due to dominant mutations in TWIST2 (MIM: 607556), affecting a highly conserved residue.…”

A case of Barber‐Say syndrome in a male Japanese newborn

“…Psychomotor retardation 4 David et al [13] Ectropion, macrostomia, redundant skin, hypoplastic nipples, abnormal ears, hypertelorism 5 Matinez et al [10] A child born to a consanguineous parents hypertrichosis, macrostomia, ectropion, and atrophic skin. 6 Sod et al [4] Macrostomia, hypertelorism, redundant skin, heypertrichosis without ectropion 7 Mazzanti et al [6] Redundant skin, ectropion, bulbous nose, macrostomia, absence of mammary glands 8-9 Dinulos et al [9] Mother to son transmission of Barber-Say syndrome hypertrichosis, redundant skin, small ears hearing loss 10 Haensel et al [5] Hypertrichosis mentary nipples, redundant dry skin, and ambiguous genitalia [3]. AMS is also very rare, and fewer than 20 patients have been reported to date.…”

“…Furthermore, a BSS patient with microblepharon has also been described [5]. Therefore, it is possible that BSS and AMS may derive from defective regulation of the same or similar genes [6]. Post-discharge, this patient has been followed by specialists, including an oral surgeon, a dermatologist, an ophthalmologist, and a plastic surgeon.…”