BACKGROUND 3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities. Radiographic images may show delayed bone maturation long slender tubular bones, and tall vertebral bodies. Due to the inheritance mode of 3-M syndrome disease, early diagnosis is vital for genetic counseling. CASE REPORT In this case report, we present the case of a 3-year-old male patient who was referred to our clinic for development assessment due to delayed development, particularly speech, who had clinical outcomes of 3-M syndrome. CONCLUSIONS The aim of the case report is to add this new patient to the literature on 3-M syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335979 | PMC |
| http://dx.doi.org/10.12659/AJCR.912736 | DOI Listing |
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Article Synopsis
- 3M syndrome is a rare genetic disorder that causes growth deficiencies and distinct facial features, typically diagnosed through genetic testing for specific mutations in the CUL7, OBSL1, or CCDC8 genes.
- In a case study, a Chinese couple faced challenges with an abnormal pregnancy showing 3M phenotypes; whole-exome sequencing revealed two new mutations in the CUL7 gene as potential causes.
- After genetic counseling, the couple chose preimplantation genetic testing to reduce the risk of having another child affected by 3M syndrome, leading to the successful birth of a healthy baby.
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