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Article

Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature.

Clinical endocrinology - 1 Oct 2026

Swapnil Kumar, Basu Rajdeep, Nanda Roohi, Mondal Sunetra, Mandal Soumita, Goswami Soumik, Baidya Arjun, Sengupta Nilanjan

Abstract excerpt

BACKGROUND: Meier-Gorlin-syndrome (MGORS) is a rare cause of primordial dwarfism stemming from pathogenic variants in genes involved in DNA replication. The classic clinical triad is microtia, absent patella and short stature. MGORS can mimic endocrine causes of short stature or delayed/atypical pubertal development. METHODS: We report two new cases of MGORS. A systematic literature search of all cases published...

Read the complete abstract on PubMed

Topics

Humans
Female
Patella
Congenital Microtia
Male
Micrognathism

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Child

Adolescent

Human Growth Hormone

Growth Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 42496035
DOI: 10.1111/cen.70183
PMCID: PMC13532151

Genes

CDC6
GMNN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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