GeneReviews(®)

GeneReviews(®)

Book. 1993

Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K

Abstract
CLINICAL CHARACTERISTICS: Burn-McKeown syndrome (BMKS) is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge and widely spaced eyes, and large and protruding ears), congenital heart defects, and short stature. Intellect is usually normal. To date, the diagnosis of BMKS has been molecularly confirmed in 14 individuals from 11 families.
DIAGNOSIS/TESTING: The diagnosis of BMKS is difficult to establish solely on clinical findings and thus is established in a proband with biallelic pathogenic variants in TXNL4A. All probands described to date have had at least one copy of one of the two partially overlapping 34-bp deletions in the TXNL4A promoter.
MANAGEMENT: Treatment of manifestations: Neonates with airway compromise at delivery may require intubation or surgical correction of choanal stenosis/atresia. Defects of the lower eyelids that can result in corneal exposure require care by an ophthalmologist to reduce the risk of corneal scarring. Treatment of hearing loss is individualized and may involve conventional hearing aids. Treatment of craniofacial manifestations (e.g., cleft lip and/or palate, preauricular tags, prominent ears) is individualized and managed by a multidisciplinary team. Cardiac defects are managed in a routine manner. Surveillance: Monitoring of development by a physician with expertise in craniofacial disorders; routine measurements of height and weight, hearing assessment, and ophthalmologic examination.
GENETIC COUNSELING: BMKS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the TXNL4A pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible options.

PMID: 27413799

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