Congenitalmicrogastria‐limb reduction association: A case report and review of the literature
| Autor: | Olaf Bodamer, Suraj Shah, Asma Rashid |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Asplenia Solitary kidney Mild micrognathia Limb reduction Limb Deformities Congenital 030105 genetics & heredity 03 medical and health sciences Genetics Humans Medicine Abnormalities Multiple Genetics (clinical) business.industry Stomach Microgastria medicine.disease Congenital microgastria 030104 developmental biology medicine.anatomical_structure Child Preschool Upper limb Presentation (obstetrics) business |
| Zdroj: | American Journal of Medical Genetics Part A. 182:2976-2981 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61872 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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