Achondroplasia-hypochondroplasia complex in a newborn infant.

@article{Huggins1999AchondroplasiahypochondroplasiaCI,
  title={Achondroplasia-hypochondroplasia complex in a newborn infant.},
  author={M. B. Huggins and Jason G Smith and Kathy Chun and Peter N. Ray and Jay K Shah and Donald T Whelan},
  journal={American journal of medical genetics},
  year={1999},
  volume={84 5},
  pages={396-400}
}
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 the FGFR3 gene. Neither had had genetic counseling or… CONTINUE READING