Document Detail


Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds).
MedLine Citation:
PMID:  15770131     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a newborn infant with defects similar to those seen in mice heterozygous for the mutant disorganization (Ds) gene. The child had left popliteal webbing, left iliac bone hypoplasia, bifid scrotum, hypospadias, chordee deformity of the penis and a sacral dimple. Other anomalies included absence of the right kidney and a bizarre hamartomatous tubular skin pedicle on the left thigh. No obvious amniotic bands or oligohydramnios were noted. The similarity between the proband's anomalies, those in previously reported cases, and those found in mice support the possibility of a human homologue of the Ds gene.
Authors:
E Esra Onal; Canan Türkyilmaz; Yildiz Atalay; Nurullah Okumuş
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  14     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-03-16     Completed Date:  2005-10-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  89-91     Citation Subset:  IM    
Affiliation:
Gazi University Medical School, Division of Neonatology, 102. sokak no:9/2 Birlik mah, 06610 Cankaya-Ankara, Turkey. esraonal@gazi.edu.tr
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Animals
Bone and Bones / abnormalities
Hip / abnormalities
Humans
Hypospadias / pathology
Infant, Newborn
Kidney / abnormalities*
Lower Extremity Deformities, Congenital / pathology*
Male
Mice
Mutation / genetics
Penis / abnormalities
Skin Abnormalities / pathology*
Syndrome
Turkey

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