3-M syndrome: endocrinologist's view of a rare genetic disease. Case report

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Abstract

3-M syndrome is a rare hereditary disease with an autosomal recessive type of inheritance, characterized by intrauterine and severe postnatal growth retardation, phenotypic and radiological features with no intellectual disability. A little more than 200 cases of this syndrome have been described in the world. 3-M syndrome is the only disease to date that is associated with pathogenic biallelic variants in the genes CCDC8, CUL7, OBSL1. Short stature is the main clinical manifestation of 3-M syndrome. Until now, the issue of treating short stature with growth hormone remains controversial due to the small number of patients with this disease and the lack of large-scale clinical studies.

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About the authors

Natalia N. Volevodz

National Medical Research Center for Endocrinology; Vladimirsky Moscow Regional Research Clinical Institute

Email: zyuzikova.zinaida@endocrincentr.ru
ORCID iD: 0000-0001-6470-6318
SPIN-code: 1127-0933

D. Sci. (Med.), Prof.

Russian Federation, Moscow; Moscow

Zinaida S. Zyuzikova

National Medical Research Center for Endocrinology

Author for correspondence.
Email: zyuzikova.zinaida@endocrincentr.ru
ORCID iD: 0000-0001-6709-8231
SPIN-code: 6731-8990

Cand. Sci. (Med.)

Russian Federation, Moscow

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2. Fig. 1. The patient's height at birth and at the time of examination.

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