Turnpenny P D, Davidson R, Stockdale E J, Tolmie J L, Sutton A M
Department of Paediatrics, Nazareth Hospital, Israel.
Clin Dysmorphol. 1993 Jan;2(1):81-6.
We describe three cases of prenatal infantile cortical hyperostosis (Caffey's disease) from two families, all associated with maternal polyhydramnios. Case 1 (family 1) was an early early neonatal death after delivery at 27 weeks gestation, case 2 (family 2) an intrauterine death at 33 weeks. Case 3 (family 2) had limited skeletal involvement and followed a course typical for Caffey's disease. Only six cases of prenatal Caffey's disease with extensive skeletal involvement have previously been described. Polyhydramnios was reported in all but one and the condition was lethal unless pregnancy reached term. To our knowledge cases 2 and 3 reported here represent the first description of Caffey's disease in which the prenatal lethal form was not sporadic.
我们描述了来自两个家族的三例产前婴儿皮质增生症（卡菲氏病），均与母亲羊水过多有关。病例1（家族1）在妊娠27周分娩后为极早期新生儿死亡，病例2（家族2）在33周时宫内死亡。病例3（家族2）骨骼受累有限，病程符合卡菲氏病的典型表现。此前仅报道过6例产前广泛骨骼受累的卡菲氏病。除1例之外，其他所有病例均报告有羊水过多，并且除非妊娠足月，否则病情均为致死性。据我们所知，此处报告的病例2和病例3是卡菲氏病的首次描述，其中产前致死型并非散发性。
