Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E. Hoover-Fong

Research output: Contribution to journalArticlepeer-review

Abstract

We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature.

Original languageEnglish (US)
Pages (from-to)410-416
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number3
DOIs
StatePublished - Mar 2019

Keywords

  • Feingold syndrome
  • MIR17HG
  • aortic dilation
  • growth hormone deficiency

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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