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Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. Am J Med Genet A 2019 Mar;179(3):410-416

Date

01/24/2019

Pubmed ID

30672094

Pubmed Central ID

PMC7038632

DOI

10.1002/ajmg.a.61037

Scopus ID

2-s2.0-85060528235 (requires institutional sign-in at Scopus site)   7 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.

Author List

Muriello M, Kim AY, Sondergaard Schatz K, Beck N, Gunay-Aygun M, Hoover-Fong JE

Author

Michael Muriello MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Adult
Aged
Aorta
Cognition
Eyelids
Female
Genetic Association Studies
Growth Charts
Human Growth Hormone
Humans
Intellectual Disability
Limb Deformities, Congenital
Magnetic Resonance Imaging
Male
Microcephaly
Phenotype
Radiography
Tracheoesophageal Fistula