| Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "Circumferential skin creases Kunze type" | |
| | |
MedLine Citation:
|
PMID: 21262397 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type". |
| | |
Authors:
|
Leen Wouters; Celia Maria Rodriguez Rodriguez; Elena Porta Dapena; Vincent Vander Poorten; Koen Devriendt; Hilde Van Esch |
Related Documents
:
|
22285767 - Deregulated mtor-mediated translation in intellectual disability. 22322417 - Perspectives on the dynamic development of cognitive capacities: insights from william... 13935207 - Folates in megaloblastic anaemia. 6597137 - Plantar ulcers in hereditary sensory neuropathy. a plea for conservative treatment. 20579827 - Superior mesenteric artery syndrome: a rare etiology of upper intestinal obstruction in... 1190257 - The jeune syndrome (asphyxiating thoracic dystrophy) in an adult. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-1-21 |
Journal Detail:
|
Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
|
Created Date: 2011-1-25 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
|
Department of Paediatrics, Herestraat 49, B-3000 Leuven, Belgium. |
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: Adult intussusception in Northern India.
Next Document: A high-quality secretome of A549 cells aided the discovery of C4b-binding protein as a novel serum b...