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

American journal of medical genetics. Part A(2020)

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摘要
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.
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关键词
congenital microgastria, developmental fields, embryogenesis, limb reductions
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