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

• Published in: American journal of medical genetics. Part A 2019-03, Vol.179 (3), p.410-416
• Main Authors: Muriello, Michael, Kim, Alexander Y., Sondergaard Schatz, Krista, Beck, Natalie, Gunay‐Aygun, Meral, Hoover‐Fong, Julie E.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple; Adult; Aged; Aorta; Aorta - abnormalities; aortic dilation; Chromosome 13; Cognition; Compression; Echocardiography; Eyelids - abnormalities; Feingold syndrome; Female; Genetic Association Studies - methods; Growth Charts; growth hormone deficiency; Growth hormones; Human Growth Hormone - deficiency; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; Magnetic Resonance Imaging; Male; Microcephaly; Microcephaly - diagnosis; Microcephaly - genetics; MIR17HG; Phenotype; Phenotypes; Physical growth; Radiography; Sleep disorders; Syndactyly; Tracheoesophageal Fistula - diagnosis; Tracheoesophageal Fistula - genetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.61037

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.