Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Abstract

Key Clinical MessageBarber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

Barber Say Syndrome (A new case report)

“…The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed. 17 …”

Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber–Say syndrome

“…Both entities show a phenotypic overlap, with differences in severity, and appear to be part of a continuum. 1,2 BSS was first described in 1982 in a girl with multiple congenital anomalies characterized by macrostomia, ectropion, atrophic skin, hypertrichosis, and growth delay. It is produced by heterozygous variants in TWIST2.…”

“…2 The skin is typically redundant, wrinkled, thin, and dry. 1 Two mosaic patients have been described with skin hyperpigmentation following Blaschko lines. 2 Small or absent nipples are common, and small or absent mammary glands have been reported in female patients.…”

“…Barber–Say syndrome (BSS), and ablepharon macrostomia syndrome, are congenital malformation syndromes caused by pathogenic variants in TWIST2 . Both entities show a phenotypic overlap, with differences in severity, and appear to be part of a continuum 1,2 …”

“…The teeth are generally widely spaced, small, and delayed in eruption 2 . The skin is typically redundant, wrinkled, thin, and dry 1 . Two mosaic patients have been described with skin hyperpigmentation following Blaschko lines 2 .…”