Journal article
Achondroplasia–hypochondroplasia complex in a newborn infant
Abstract
We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in …
Authors
Huggins MJ; Smith JR; Chun K; Ray PN; Shah JK; Whelan DT
Journal
American Journal of Medical Genetics, Vol. 84, No. 5, pp. 396–400
Publisher
Wiley
Publication Date
June 11, 1999
DOI
10.1002/(sici)1096-8628(19990611)84:5<396::aid-ajmg2>3.0.co;2-l
ISSN
0148-7299