Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
We describe a 12-year-old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone.
Lane
Andrew H
AH
Department of Pediatrics, State University of New York, Stony Brook, New York, USA. alane@mail.som.sunysb.edu
Aijaz
Naghma
N
Galvin-Parton
Patricia
P
Lanman
Joseph
J
Mangano
Robert
R
Wilson
Thomas A
TA
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009030:Mosaicism
D019382:Human Growth Hormone