| Congenital cataracts, facial dysmorphism, and neuropathy syndrome. | |
| | |
MedLine Citation:
|
PMID: 21824574 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the second case of this syndrome in a Greek Roma family, diagnosed in early infancy, along with the prenatal diagnosis in a subsequent pregnancy. |
| | |
Authors:
|
Flora Tzifi; Roser Pons; Corina Athanassaki; Myrto Poulou; Emmanuel Kanavakis |
Related Documents
:
|
14694054 - Autosomal recessive, dyt2-like primary torsion dystonia: a new family. 3428724 - Deficiency of c2, the second complement component, in the family of a patient with sle-... 7793794 - Familial saethre-chotzen syndrome with or without polydactyly of the toe. 16691594 - Autosomal dominant syndrome resembling coffin-siris syndrome. 12360534 - Stiff man syndrome and related conditions. 15461874 - Association of myasthenia gravis and antisynthetase syndrome: a case report. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Pediatric neurology Volume: 45 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2011 Sep |
Date Detail:
|
Created Date: 2011-08-09 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 206-8 Citation Subset: IM |
Copyright Information:
|
Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
|
First Department of Pediatrics, National Kapodistrian University of Athens, Children's Hospital Aghia Sophia, Athens, Greece. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme a dehydrogenase deficiency.
Next Document: The Anatomy and Pathophysiology of Neck Pain.