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

Détails

ID Serval
serval:BIB_652FA92BBBF2
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.
Périodique
Genetic Counseling
Auteur⸱e⸱s
Cogulu O., Gunduz C., Karaca E., Onay H., Superti-Furga A., Ozkinay F.
ISSN
1015-8146 (Print)
ISSN-L
1015-8146
Statut éditorial
Publié
Date de publication
2007
Volume
18
Numéro
1
Pages
77-83
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/03/2011 17:09
Dernière modification de la notice
20/08/2019 15:21
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