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- PMID: 22052851
- UKPMCID: 22052851
- DOI: 10.1002/ajmg.a.34318
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Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.
Sakthivel, Muthukumar; Hughes, Stephen M; Riley, Phil; Arkwright, Peter D; Mukherjee, Anindya; Ramsden, Simon; Urquhart, Jill; Crow, Yanick J
American journal of medical genetics. Part A. 2011;.
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Full-text held externally
- PMID: 22052851
- UKPMCID: 22052851
- DOI: 10.1002/ajmg.a.34318
Abstract
The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. © 2011 Wiley Periodicals, Inc.