AI Article Synopsis
- The patient exhibits features similar to the congenital microgastria-limb reduction association (MLRD), including underdeveloped stomach, limb anomalies, absence of spleen, a single kidney, and slight jaw underdevelopment.
- MLRD is linked to various other health issues affecting the respiratory, cardiovascular, and central nervous systems.
- The condition is believed to be caused by developmental issues during early embryonic weeks, although no specific genetic cause has been identified, and the study aims to expand knowledge on the range of MLRD symptoms.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.61872 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!