Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.
Publication types: Case Reports ; Journal Article Publication Status: ppublish
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.
Abnormalities, Multiple/genetics, Dextrocardia, Duane Retraction Syndrome, Female, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Membrane Proteins/genetics, Meningomyelocele, Ribs/abnormalities, Spine/abnormalities
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