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Stuve-Wiedemann syndrome with a novel mutation

Knipe, Megan Duleeka W., Stanbury, Rowan, Unger, Sheila and Chakraborty, Mallinath 2015. Stuve-Wiedemann syndrome with a novel mutation. BMJ Case Reports 2015 , bcr2015212032. 10.1136/bcr-2015-212032

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We describe a female infant born at term to consanguineous parents, with a suspicion of skeletal dysplasia in utero. At birth, she had short limbs, camptodactyly, dysphagia leading to nasogastric tube feeds, and skeletal survey demonstrating dysplasia of long bones and spine. During infancy, she also developed episodes of respiratory failure necessitating admission to intensive care, and periods of hyperhidrosis managed at home. A basic genetic screen did not reveal any abnormalities. Contact was made with the European Skeletal Dysplasia Network, and a provisional diagnosis of Stuve-Wiedemann syndrome was suggested based on this review. Specific genetic tests showed a previously unreported homozygous mutation of leukaemia inhibitory factor receptor gene, confirming the diagnosis. This is the first case with a novel mutation, reported from the UK. For paediatricians and neonatologists, the European Skeletal Dysplasia Network is a valuable resource to reach a specific diagnosis.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ Publishing Group Ltd
ISSN: 1757-790X
Date of Acceptance: 18 August 2015
Last Modified: 16 Feb 2024 07:25

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