Martínez-Frías M L, Ramos-Arroyo M A, Salvador J
Estudio Colaborativo Español de Malformaciones Congénitas, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1988 Dec;31(4):815-20. doi: 10.1002/ajmg.1320310414.
We present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births. The incidence (live and stillbirth) was 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was significantly higher as compared with control parents. These findings suggest the occurrence of autosomal dominant mutation, with an overall mutation rate of 1.34 X 10(-5) in our population, which is close to that observed in achondroplasia.
我们展示了在西班牙先天性畸形协作研究中收集的13例致死性骨发育不全病例，该研究涵盖了517,970例出生人口。发病率（活产和死产）为每100,000例出生2.7例。所有病例均为散发性，无父母近亲结婚的证据。与对照父母相比，父母年龄显著更高。这些发现提示常染色体显性突变的发生，在我们的人群中总体突变率为1.34×10⁻⁵，这与软骨发育不全中观察到的相近。
