AI Article Synopsis
- Renpenning syndrome is a rare genetic disorder linked to the X chromosome, leading to symptoms like mental retardation, short stature, and facial abnormalities.
- A literature review featuring a 23-month-old Korean boy highlighted his symptoms, including a narrow face and heart anomaly, alongside a newly identified genetic mutation.
- The case emphasizes the importance of considering Renpenning syndrome as a possible diagnosis in males with similar symptoms.
Article Abstract
Renpenning syndrome is a rare X-linked disorder characterized by mental retardation, leanness, microcephaly, facial dysmorphism, short stature, and small testes. This disease is caused by mutations. Herein, we present a literature review and describe the clinical and molecular findings in a Korean boy with Renpenning syndrome. A 23-month-old boy presented with mental retardation, narrow face, bulbous nose, and cardiac anomaly. Interestingly, targeted exome sequencing identified a novel mutation c.559delT (p.Tyr187llefs*8) in the gene, and he was diagnosed as having Renpenning syndrome. In line with previously reported studies, our case suggests that men with mental retardation, short stature, and microcephaly should include Renpenning syndrome as a differential diagnosis.
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