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Article

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.

Journal of clinical research in pediatric endocrinology - 1 Mar 2017

Keskin Melikşah, Muratoğlu Şahin Nursel, Kurnaz Erdal, Bayramoğlu Elvan, Savaş Erdeve Şenay, Aycan Zehra, Çetinkaya Semra

Abstract excerpt

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of...

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Identifiers

PMID: 27796265
DOI: 10.4274/jcrpe.3238
PMCID: PMC5363173

Genes

OBSL1

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Related research

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Research trail→

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A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.PMID 27796265Read ↗

A rare cause of syndromic short stature: 3M syndrome in three families.Semantic proximity Read ↗

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.Semantic proximity Read ↗

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese PopulationSemantic proximity Read ↗

[Clinical and molecular genetic analysis of a patient with 3-M syndrome].Semantic proximity Read ↗

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.Semantic proximity Read ↗

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.Semantic proximity Read ↗

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

Three M syndrome 2 in two Indian patients.Semantic proximity Read ↗

3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.Semantic proximity Read ↗

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Semantic proximity Read ↗

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.Semantic proximity Read ↗

SHORT syndrome in a two-year-old girl - case report.Semantic proximity Read ↗

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