Beare-Stevenson cutis gyrata syndrome a bibliography and dictionary for physicians, patients, and genome researchers [to Internet references] by James N. Parker

Cover of: Beare-Stevenson cutis gyrata syndrome | James N. Parker

Published by ICON Health Publications in San Diego, CA .

Written in English

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Subjects:

  • Craniosynostoses,
  • Pediatric Emergencies,
  • Bibliography,
  • Computer network resources,
  • MEDICAL,
  • Dictionaries,
  • Research

Edition Notes

Book details

StatementJames N. Parker and Philip M. Parker, editors
SeriesA 3-in-1 medical reference, 3-in-1 medical reference
Classifications
LC ClassificationsRJ482.C73 B43 2007eb
The Physical Object
Format[electronic resource] :
Pagination1 online resource.
ID Numbers
Open LibraryOL27020217M
ISBN 101429495650
ISBN 109781429495653
OCLC/WorldCa173817841

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Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis).

This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson Cutis Gyrata Syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis).

Beare-Stevenson Cutis Gyrata Syndrome. About ten individuals have been described, including children of Caucasian and African descent. A new mutation on chromosome 10q26, transmitted in an autosomal dominant way, seems to be the most likely cause. The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the pathogenic variant in FGFR3).

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the pathogenic variant in Cited by:.

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