HabibUllah Hafiz, Al-Baradie Raidah, Bashir Shahid
Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Department of Neurolphysiology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Am J Case Rep. 2019 Jan 9;20:36-38. doi: 10.12659/AJCR.912736.
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.
3-M综合征是一种罕见疾病，其特征为严重生长发育迟缓、畸形特征和骨骼异常。影像学图像可能显示骨骼成熟延迟、长管状骨细长以及椎体高大。由于3-M综合征的遗传模式，早期诊断对于遗传咨询至关重要。病例报告：在本病例报告中，我们介绍了一名3岁男性患者，因其发育迟缓，尤其是语言发育迟缓，被转诊至我们诊所进行发育评估，该患者具有3-M综合征的临床症状。结论：本病例报告的目的是将这名新患者补充到关于3-M综合征的文献中。
