| New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels. | |
| | |
MedLine Citation:
|
PMID: 21848004 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant ofbrachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome. |
| | |
Authors:
|
A Koç; M Bahce; H T Sanal; A Uludag; S Kozan; D Torun; B Ustunsoz; S Guran |
Related Documents
:
|
2929654 - Orofaciodigital syndrome type iv: report of a patient. 22266624 - Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature. 18983974 - Sumo1 polymorphisms are associated with non-syndromic cleft lip with or without cleft p... 8357564 - Miller postaxial acrofacial dysostosis. the phenotypic changes with age. 19373684 - Coats' disease, megalopapilla and cornelia de lange syndrome. 16299044 - A case of post-reperfusion syndrome following surgery for liver trauma. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Genetic counseling (Geneva, Switzerland) Volume: 22 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2011 |
Date Detail:
|
Created Date: 2011-08-18 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 129-34 Citation Subset: IM |
Affiliation:
|
Dept. of Medical Genetics, Gulhane Military Academy, Etlik, Ankara, Turkey. |
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: [Expression of human aspartyl beta-hydroxylase and preparation of its monoclonal antibody].
Next Document: The role of genomics in prevention or reducing the impact of congenital malformations.