Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

doi:10.1136/jmedgenet-2017-105222

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Article

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Journal of medical genetics - 1 May 2018

Jobling Rebekah, Stavropoulos Dimitri James, Marshall Christian R, Cytrynbaum Cheryl, Axford Michelle M, Londero Vanessa, Moalem Sharon, Orr Jennifer, Rossignol Francis, Lopes Fatima Daniela, Gauthier Julie, Alos Nathalie, Rupps Rosemarie, McKinnon Margaret, Adam Shelin, Nowaczyk Malgorzata J M, Walker Susan, Scherer Stephen W, Nassif Christina, Hamdan Fadi F, Deal Cheri L, Soucy Jean-François, Weksberg Rosanna, Macleod Patrick, Michaud Jacques L, Chitayat David

Abstract excerpt

BACKGROUND: Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. METHODS AND RESULTS: We identified three unrelated families with a total of six affected patients with the clinical manifestations of...

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PMID: 29599419
DOI: 10.1136/jmedgenet-2017-105222

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MAGEL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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