We have collected the most relevant information on Facio-Audio-Symphalangism Syndrome. Open the URLs, which are collected below, and you will find all the info you are interested in.
An autosomal dominant facio-audio symphalangism syndrome ...
https://pubmed.ncbi.nlm.nih.gov/2080998/#:~:text=An%20autosomal%20dominant%20facio-audio%20symphalangism%20syndrome%20with,Klippel-Feil%20anomaly%3A%20a%20new%20variant%20of%20multiple%20synostoses
The facio-audio-symphalangism syndrome: report of a …
https://pubmed.ncbi.nlm.nih.gov/4028502/
A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.
The facio-audio-symphalangism syndrome: report of a …
https://www.ncbi.nlm.nih.gov/pubmed/4028502
The facio-audio-symphalangism syndrome: report of a case and review of the literature. Hurvitz SA, Goodman RM, Hertz M, Katznelson MB, Sack Y. A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome.
Complex facio-audio-symphalangism syndrome. An …
https://www.ncbi.nlm.nih.gov/pubmed/15658623
Complex facio-audio-symphalangism syndrome. an autosomal recessive type?: This report describes a new case of facio-audio-symphalangism syndrome in a 32-year-old female patient from a consanguineous family. She had a severely mentally retarded and anophthalmic sister. These associations might be coincidental or demonstrate genetic heterogeneity ...
An autosomal dominant facio-audio symphalangism …
https://pubmed.ncbi.nlm.nih.gov/2080998/
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses. A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare.
The facio-audio-symphalangism syndrome in a four ...
https://www.researchgate.net/publication/7964974_The_facio-audio-symphalangism_syndrome_in_a_four_generation_family_with_a_nonsense_mutation_in_the_NOG-gene
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, …
The facio-audio-symphalangism syndrome: report of a case ...
https://www.deepdyve.com/lp/wiley/the-facio-audio-symphalangism-syndrome-report-of-a-case-and-review-of-gAdWHz6793
A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature. Journal. Clinical Genetics – Wiley. Published: Jul 1, 1985
SíNDROME FACIO-AUDIO- SINFALANgISMO: REpORTE DE UN …
https://www.medigraphic.com/pdfs/revmedcoscen/rmc-2015/rmc153r.pdf
of Marfan syndrome. Proved by clinical and x-rays the patient was classified as Facio -audio- symphalangism syndrome. The mother has similar clinical and radiographic features as the patient; there is a family history for consanguinity that apparently had the same clinical * Doctorado en Genética Humana. CUCS. Universidad de Guadalajara, México .
Autosomal dominant stapes fixation, syndactyly, and ...
https://pubmed.ncbi.nlm.nih.gov/29605356/
Objective: Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation, syndactyly and symphalangism. Methods: Retrospective report on eight affected family members in a Danish family. Clinical investigation included X-ray, audiology and in one case video-recorded surgery.
OMIM Entry - # 186500 - MULTIPLE SYNOSTOSES …
https://www.omim.org/entry/186500
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. Clin. Dysmorph. 14: 73-80, 2005. [PubMed: 15770128] [Full Text: https://journals.lww.com/15770128.pmid]
Orphanet: Search a disease
https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2896
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Now you know Facio-Audio-Symphalangism Syndrome
Now that you know Facio-Audio-Symphalangism Syndrome, we suggest that you familiarize yourself with information on similar questions.
