Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms.
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Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
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Dermatology Department, Hospital Universitari Son Espases, Spain.
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Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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- Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital disorders linked to mutations in the TWIST2 gene, featuring notable eye abnormalities including underdeveloped eyelids.
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Indian Dermatol Online J
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Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy.
View Article and Find Full Text PDFMultidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report.
Arch Soc Esp Oftalmol (Engl Ed)
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Servicio de Dermatología, Hospital Universitario y Politécnico La Fe, Valencia, España.
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests.
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