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Congenital microgastria‐limb reduction association: A case report and review of the literature
Author(s) -
Shah Suraj S.,
Rashid Asma,
Bodamer Olaf A.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61872
Subject(s) - presentation (obstetrics) , congenital malformations , medicine , reduction (mathematics) , phenotype , association (psychology) , asplenia , upper limb , pediatrics , anatomy , surgery , psychology , biology , genetics , gene , pregnancy , geometry , mathematics , spleen , psychotherapist
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.