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Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome
Author(s) -
Schweiger Bahareh M.,
Esakhan Chaya L.,
Frishberg David,
Grand Katheryn,
Garg Ruchira,
SanchezLara Pedro A.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62255
Subject(s) - macroglossia , beckwith–wiedemann syndrome , omphalocele , medicine , umbilical hernia , organomegaly , hemihypertrophy , pediatrics , dermatology , disease , pathology , genetics , surgery , pregnancy , hernia , fetus , biology , gene expression , tongue , dna methylation , gene
Abstract Beckwith–Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome that can be associated with a spectrum of clinical features including isolated lateralized overgrowth, macrosomia, macroglossia, organomegaly, omphalocele/umbilical hernia, and distinct facial features. Because of a range of clinical presentations and molecular defects involving Chromosome 11p15, many cases will fall within what is now being defined as the Beckwith–Wiedemann spectrum (BWSp). Cushing syndrome (CS) in infants is a rare neuroendocrinological disease associated with hypercortisolism that has rarely been reported in patients with BWS. Here, we describe the first case of a 5‐month‐old male with CS secondary to paternal uniparental disomy of Chromosome 11p without additional clinical signs or symptoms of BWS. This case continues to expand the phenotypic spectrum of BWSp.