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PMID: 41836891 已发表 · epublish 英语

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Journal of surgical case reports ·第 2026 卷 ·第 3 期 ·2026-03-00

Fakeeha JH, Alotaibi MA, Alshugair IF, Altwaijri NA

摘要

3M syndrome is a rarely inherited autosomal recessive disorder caused by mutations in cullin-7 (CUL7), obscurin-like 1 (OBSL1), and coiled-coil domain containing protein 8 (CCDC8). It is associated with multiple dysmorphic features, including characteristic facial dysmorphism (a face that is triangular, full lips, frontal bossing, a nasal tip that is fleshy, long philtrum, protruding ears and macrocephaly), severe growth retardation prenatally and postnatally and normal intelligence. Although there are multiple skeletal manifestations of the syndrome, such as joint laxity, there is no mention of developmental dysplasia of the hip (DDH) to be associated with it anywhere in the literature. Therefore, we present the first case of bilateral DDH in a patient with 3M syndrome, which was managed similarly to other DDH cases with operative reduction, pelvic osteotomies, and femoral shortening, with a satisfactory outcome after 3 years of follow-up.

关键词
3M syndrome Cul7 OBSL1 deformity developmental dysplasia of the hip
文献信息
期刊
Journal of surgical case reports
期刊简称
J Surg Case Rep
ISSN
2042-8812
发表日期
2026-03-00
语言
英语
国家/地区
England
NLM ID
101560169
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