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

Edwards, Matthew; Rowe, Lindsay J.; Petroff, Victor

doi:10.1002/1096-8628(20001113)95:2<118::aid-ajmg5>3.0.co;2-v

Cited by 12 publications

References 14 publications

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Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

et al. 2005

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We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or tarsal involvement, and broad ribs and clavicles. Spinal X-rays were available from age 4 to 21, demonstrating that the spinal involvement was progressive and led to a complete anterior and lateral fusion of vertebrae. A complete sequencing of the NOGGIN gene failed to find any mutation. In addition, this girl was carrier of an apparently balanced reciprocal translocation t(10;20)(p11;p13). We investigated the role of the BMP2A gene as a potential candidate gene. Fluorescence in situ hybridization with YAC probes from chromosome 20 showed that the BMP2A gene was not disrupted by the translocation breakpoint.

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Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

et al. 2005

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A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury

Stephan

2005

American J of Med Genetics Pt A

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"Organized human endeavor can be lifted an order of magnitude through teaching if it is inspiring" (Editor, Am J Dis Child, 1972). The benevolent influence of Dr. Judy Hall's inspiring clinical teaching in the field of genetic syndromes and birth defects is illustrated through the eventual surgical remediation of conductive hearing loss for a 4-year-old girl with unusual knuckles. The fascinating history of this child's syndrome has been further explored in the descendents of the first Earl of Shrewsbury. The legends of his story and his role in the Hundred Years War were immortalized by William Shakespeare in his play Henry VI Part I, but neither Shakespeare nor historians documented that the Earl actually had abnormal finger joints. Heterozygous mutations in the human noggin gene (NOG) cause a spectrum of joint fusions, including this child's traits. On behalf of practitioners of medicine, pediatrics, clinical genetics, and dysmorphology, as well as research scientists in the many domains of genetics, thank you, Judy, for your inspiration, enthusiasm, and teaching.

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Multiple synostoses syndrome: Clinical report and retrospective analysis

Pan

Lü

et al. 2020

American J of Med Genetics Pt A

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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 to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotypephenotype correlations have been identified for mutations in NOG in different races.Regular systematic examinations and hearing aids are beneficial for this syndrome.However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.Zhaoyu Pan and Wei Lu contributed equally to this work.The English in this document has been checked by at least two professional editors, both native speakers of English. For a certificate, please see: http://www.textcheck.com/certificate/y4aVIb. conductive hearing loss, multiple synostoses syndrome, NOG, proximal symphalangism

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

Cited by 12 publications

References 14 publications

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury

Multiple synostoses syndrome: Clinical report and retrospective analysis

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