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Article

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

European journal of medical genetics - 1 Dec 2021

Tüysüz Beyhan, Alp Ünkar Zeynep, Turan Hande, Gezdirici Alper, Uludağ Alkaya Dilek, Kasap Buşra, Yeşil Gözde, Vural Mehmet, Ercan Oya

Abstract excerpt

3M syndrome is characterized by severe pre- and post-natal growth restriction, typical face, slender tubular bones, tall vertebral bodies, prominent heels and normal intelligence. It is caused by biallelic variants of CUL7, OBSL1 and, more rarely, CCDC8. The aim of this study is to evaluate facial and skeletal findings in 3M patients from neonatal period to adulthood. A total of 19 patients with a median age of...

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PMID: 34597859
DOI: 10.1016/j.ejmg.2021.104346

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