choanal atresia/surdez

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Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

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We describe a 14-year-old boy with congenital bilateral cataracts, blepharophimosis, ptosis, choanal atresia, sensorineural hearing loss, short, webbed neck, poor esophageal motility, severe growth and mental retardation, skeletal anomalies, seizures, and no speech. As an infant, he had transient

Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.

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Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband

Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy.

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This article focuses on the case of a newborn infant boy with bilateral choanal atresia, tracheoesophageal fistula, and bilateral fifth-finger clinodactyly. This infant had been exposed to carbimazole in utero during the treatment of maternal Graves disease. Teratogenic defects caused by carbimazole

Antenatal carbimazole and choanal atresia: a new embryopathy.

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Carbimazole embryopathy is a recently recognized and defined phenotype. Choanal atresia; gastrointestinal anomalies, particularly esophageal atresia; athelia or hypothelia; developmental delay; hearing loss; aplasia cutis; and dysmorphic facial features all can occur after exposure to the

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

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We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather

Posterior choanal atresia: a syndromal disorder.

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Posterior choanal atresia has a significant incidence of associated defects. Recently a constellation of defects, bearing the acronym of CHARGE, has been described. Its entities are (ocular) Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia and Ear

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

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Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were

[Choanal atresia an institutional review].

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Choanal atresia is a rare congenital disease, it occurs in 1/8000 live newborns. OBJECTIVE retrospective review of patients with choanal atresia treated at the Department of Pediatric Otolaryngology of Medical University in Lublin. Twenty-two children were evaluated, 16 females, 6 males, age range

Double partial monosomies (10p- and Xp-) in a female baby with choanal atresia.

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Chromosomal abnormalities involving double partial monosomies are very rare. A female infant with non-mosaic monosomy 10p13-->10pter along with monosomy Xp11.4-->Xpter which arose de novo is described. The clinical manifestations of this patient included microcephaly, mild synophrys, short and

Congenital choanal atresia and nerve deafness.

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Four cases of bilateral congenital choanal atresia are presented. Three of them (75 per cent) were shown by Electric Response Audiometry (ERA) tests to have, in addition, congenital nerve deafness; and two had other congenital anomalies. Thus, congenital nerve deafness should be considered as a

Transnasal endoscopic treatment of choanal atresia without prolonged stenting.

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OBJECTIVE To analyze the outcome of transnasal endoscopic repair of choanal atresia (CA) in children without prolonged nasal stenting after surgery. METHODS Retrospective study. METHODS Academic tertiary care children's hospital. METHODS Forty children aged 3 days to 15 years (mean age, 41 months)

Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.

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We report on a 11-year-old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.

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We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic

Vestibular function in children with the CHARGE association.

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BACKGROUND Histopathological examinations and computed tomographic scans of the temporal bone in patients with the CHARGE association (a malformative syndrome that includes coloboma, heart disease, choanal atresia, retarded development, genital hypoplasia, and ear anomalies, including hypoplasia of

Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome.

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Coloboma, heart defects, choanal atresia, restricted growth and development, genital hypoplasia, ear abnormalities and/or hearing loss (CHARGE) syndrome is a congenital disorder that is mainly caused by mutations within chromodomain helicase DNA-binding protein 7 (chd7). Behavioral abnormalities

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