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Article

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

International journal of molecular sciences - 17 Aug 2022

Nazarenko Maria S, Viakhireva Iuliia V, Skoblov Mikhail Y, Soloveva Elena V, Sleptcov Aleksei A, Nazarenko Ludmila P

Abstract excerpt

Meier−Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe a 3-year-old boy with short stature, recurrent respiratory infections, short-rib dysplasia, tower head and facial...

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Identifiers

PMID: 36012502
DOI: 10.3390/ijms23169234
PMCID: PMC9408996

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