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Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
Author(s) -
Muriello Michael,
Kim Alexander Y.,
Sondergaard Schatz Krista,
Beck Natalie,
GunayAygun Meral,
HooverFong Julie E.
Publication year - 2019
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.61037
Subject(s) - microcephaly , short stature , growth hormone deficiency , medicine , neurocognitive , syndactyly , cardiology , endocrinology , pediatrics , hormone , growth hormone , surgery , cognition , psychiatry
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.