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Congenital microgastria-limb reduction association: A case report and review of the literature.

Authors :
Shah SS
Rashid A
Bodamer OA
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2976-2981. Date of Electronic Publication: 2020 Sep 18.
Publication Year :
2020

Abstract

We report a patient with phenotypic semblance to the congenital microgastria-limb reduction association (MLRD). Our patient presented with microgastria, bilateral upper limb anomalies, asplenia, solitary kidney, and mild micrognathia. In addition to the anomalies seen in our patient, MLRD has been associated with respiratory, cardiovascular, and central nervous system anomalies. MLRD is thought to arise from a developmental field defect during embryonic weeks five and six; however, no genetic cause has been elucidated. Along with our patient presentation, we review the literature to further our understanding of the MLRD phenotype spectrum.<br /> (© 2020 Wiley Periodicals LLC.)

Details

Language :
English
ISSN :
1552-4833
Volume :
182
Issue :
12
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
32945605
Full Text :
https://doi.org/10.1002/ajmg.a.61872