Document Detail


Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.
MedLine Citation:
PMID:  9714013     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index patient early whereas EDS VI was recognized only very late. Both patients had marked muscular hypotonia at birth, delayed gross motor development, progressive kyphoscoliosis, joint dislocations, Marfanoid habitus, hypertrophic and atrophic scars, and osteopenia. EDS VI was proven by collagen studies and the pathognomonic pattern of urinary pyridinolines. Because the genes coding for the two disorders are located on different chromosomes and a chromosomal rearrangement was excluded, we conclude that their combination is a chance association. The cardiopulmonary impairment common to both diseases makes the prognosis dismal.
Authors:
A Jarisch; C Giunta; S Zielen; R König; B Steinmann
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  78     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Aug 
Date Detail:
Created Date:  1998-10-26     Completed Date:  1998-10-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  455-60     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Frankfurt, Germany.
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MeSH Terms
Descriptor/Qualifier:
Amino Acids / urine
Collagen / analysis
Consanguinity
Cystic Fibrosis / complications*,  diagnosis,  genetics
Ehlers-Danlos Syndrome / complications*,  diagnosis
Female
Genes, Recessive
Hand Deformities, Congenital / radiography
Humans
Hydroxylysine / metabolism
Infant, Newborn
Nuclear Family
Pedigree
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / deficiency
Prognosis
Scoliosis / radiography
Turkey
Chemical
Reg. No./Substance:
0/Amino Acids; 28902-93-4/Hydroxylysine; 63800-01-1/pyridinoline; 9007-34-5/Collagen; EC 1.14.11.4/Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

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


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