synostosis/heyrnarleysi

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Hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis.

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OBJECTIVE Recent studies have shown increased rates of speech, language, cognitive and behavioral abnormalities in patients with isolated nonsyndromic sagittal synostosis. Little is known regarding the prevalence and type of hearing abnormalities in children with craniosynotosis. This study

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

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A 4-generation family with multiple synostoses syndrome type 4 (SYNS4) is reported, the third family identified so far. The phenotype segregated with a previously undescribed Asn399Lys (c.1197C>A) substitution in GDF6. N399 is part of a hydrophobic pocket critical for binding the BMP/GDF

Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings.

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We present the case of a mother and four children displaying signs of Multiple Synostosis Syndrome (SYNS1) associated with conductive hearing loss. The intra-familial phenotypic variation is due to variable penetrance, which is typical of this syndrome. The child with the most significant hearing

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

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BACKGROUND Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

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Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.

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Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

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Multiple synostosis syndrome (SYNS) is an autosomal dominant skeletal disorder characterized by facial dysmorphism, progressive fusion of multiple joints, and conductive hearing loss. Currently, three genes, NOG, GDF5, and FGF9, have been identified as causative of SYNS. However, due to the

Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.

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Conductive hearing loss occurs when sound waves are not relayed efficiently to the inner ear. Mutations of the NOGGIN (NOG) gene in humans are associated with several autosomal dominant disorders such as proximal symphalangism and multiple synostoses. These syndromes are characterized by skeletal

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

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BACKGROUND Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features. CONCLUSIONS We

Further delineation of the GDF6 related multiple synostoses syndrome.

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A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones,

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

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The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities. It is caused by loss-of-function mutations of the TWIST 1 gene. In an attempt to delineate functional features separating SCS from Muenke's

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).

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Spondylocarpotarsal synostosis syndrome is characterized by autosomal recessive inheritance, failure of normal spinal segmentation causing symmetrical block vertebrae or scoliosis, and lordosis. There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. Other

Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.

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A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

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Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, short stature, carpal and tarsal synostosis. Cleft palate, sensorineural or

Multiple synostoses syndrome: Clinical report and retrospective analysis.

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Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature

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