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.
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Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.
Int J Pediatr Otorhinolaryngol
May 2018
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
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.
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
Clin Dysmorphol
April 2005
Departments of Medical Genetics Oto-rhino-laryngology Radiology, University Hospital Antwerp Departments of Radiology Pediatrics, St. Lucas Hospital, Assebroek-Brugge, Belgium.
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients.
View Article and Find Full Text PDFComplex facio-audio-symphalangism syndrome. An autosomal recessive type?
Genet Couns
April 2005
Department of Pedatries, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
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.
View Article and Find Full Text PDFCongenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
Am J Med Genet
February 1999
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118-2526, USA.
We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facioaudio-symphalangism and proximal symphalangism syndromes.
View Article and Find Full Text PDFThe autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
Clin Dysmorphol
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Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
A family is reported with conductive hearing loss, hyperopia, broad thumbs and broad first toes. The family resembles a previous reported family (Teunissen B, Cremers CWRJ (1990) Laryngoscope 100: 380-384) but additionally all affected members have a typical face. Overlap of the Teunissen and Cremers syndrome with the facio-audio-symphalangism syndrome and proximal symphalangism is discussed.
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