Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
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ABSTRACT:
SUBMITTER: Muriello M
PROVIDER: S-EPMC7038632 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Publications
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Muriello Michael M Kim Alexander Y AY Sondergaard Schatz Krista K Beck Natalie N Gunay-Aygun Meral M Hoover-Fong Julie E JE
American journal of medical genetics. Part A 20190123 3
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 horm ...[more]
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