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

doi:10.1002/ajmg.a.61037

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 language	English (US)
Pages (from-to)	410-416
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	179
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.61037
State	Published - Mar 2019

Keywords

Feingold syndrome
MIR17HG
aortic dilation
growth hormone deficiency

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.61037

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

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.",

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AU - Gunay-Aygun, Meral

AU - Hoover-Fong, Julie E.

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

Abstract

Keywords

ASJC Scopus subject areas

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