| A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred. | |
| | |
MedLine Citation:
|
PMID: 12548738 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We describe 23 cases with a syndrome of congenital contractures belonging to a large, inbred Israeli-Bedouin kindred. The phenotype described is similar to the Finnish type lethal congenital contracture syndrome yet differs in the following ways: by some additional craniofacial/ocular findings, by the lack of hydrops, multiple pterygia, and fractures, and by the normal duration of pregnancy. The major unique and previously undescribed clinical feature in our patients is a markedly distended urinary bladder as well as other urinary abnormalities. The vast majority of the cases died shortly after birth. Sonographic prenatal diagnosis was possible as early as 15 weeks gestation by demonstrating fetal akinesia, limb contractures, hydramnios, and distended urinary bladder. Linkage to 5q and 9q34 loci has been excluded. |
| | |
Authors:
|
Daniella Landau; Anat Mishori-Dery; Reli Hershkovitz; Ginat Narkis; Khalil Elbedour; Rivka Carmi |
Related Documents
:
|
21271778 - Hepatopathy-thrombocytopenia syndrome (hts) after actinomycin-d therapy: report of thre... 21655208 - Mcleod syndrome: report of an indian family with phenotypic heterogeneity. 413438 - Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. 15347338 - Deleterious mutations in spink5 in a patient with congenital ichthyosiform erythroderma... 17242878 - Acute tumor lysis syndrome caused by transcatheter oily chemoembolization in a patient ... 15773458 - Radiofrequency ablation of a left-sided atrioventricular pathway in a patient with marf... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 117A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Feb |
Date Detail:
|
Created Date: 2003-01-27 Completed Date: 2003-05-20 Revised Date: 2008-05-21 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 37-40 Citation Subset: IM |
Copyright Information:
|
Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
|
Department of Neonatology, Soroka Medical Center and the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. landaud@bgumail.bgu.ac.il |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Arabs
/
genetics* Contracture / congenital, genetics* Family Health Female Genes, Recessive / genetics* Humans Infant, Newborn Israel Male Pedigree Pregnancy Pregnancy Outcome Prenatal Diagnosis Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Chromosomal fragility in patients with triple A syndrome.
Next Document: Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9.