Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.

Details

Serval ID
serval:BIB_652FA92BBBF2
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.
Journal
Genetic Counseling
Author(s)
Cogulu O., Gunduz C., Karaca E., Onay H., Superti-Furga A., Ozkinay F.
ISSN
1015-8146 (Print)
ISSN-L
1015-8146
Publication state
Published
Issued date
2007
Volume
18
Number
1
Pages
77-83
Language
english
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Abstract
Vertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature.
Keywords
Abnormalities, Multiple/genetics, Dextrocardia, Duane Retraction Syndrome, Female, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Membrane Proteins/genetics, Meningomyelocele, Ribs/abnormalities, Spine/abnormalities
Pubmed
Web of science
Create date
14/03/2011 16:09
Last modification date
20/08/2019 14:21
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