Document Detail

Ambras syndrome: report on two affected siblings with no prior family history.
MedLine Citation:
PMID:  15365467     Owner:  NLM     Status:  MEDLINE    
We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.
Valerica Belengeanu; Kinga Rozsnyai; Cristina Gug; Mariana Bănăţeanu; Simona Farcaş; Alina Belengeanu
Related Documents :
3967217 - Familial mesothelioma: review and family study.
6937447 - Multiple cases of burkitt's lymphoma and other neoplasms in families in the north mara ...
24596767 - Neonatal gastric teratoma: a rare entity.
848337 - A case of familial heterosexual transvestism.
7547167 - Acute appendicitis presenting with surgical emphysema and pneumomediastinum.
17380107 - Extensively drug-resistant tuberculosis--united states, 1993-2006.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-09-14     Completed Date:  2005-03-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  265-7     Citation Subset:  IM    
Department of Medical Genetics, University of Medicine and Pharmacy, Timişoara, Romania.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
Genes, Recessive
Hypertrichosis / genetics,  physiopathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.
Next Document:  A survey to investigate the role of the district nurse in stroke care.