Nishimura G, Kuwashima S, Kohno T, Teramoto C, Watanabe H, Kubota T
Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02, Japan.
Pediatr Radiol. 1999 Jul;29(7):506-8. doi: 10.1007/s002470050631.
We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I.
我们报告了一名患有I型口面指综合征（OFD I）并伴有多囊肾病（PKD）的女孩，这一情况通过胎儿超声和胎儿磁共振成像得以确诊。出生后，通过识别面部畸形、舌错构瘤、轴后多指畸形、脑畸形以及她已故的患有类似畸形的男性同胞，确诊了这种对男性致死的X连锁显性疾病。成年多囊肾病是OFD I杂合子女性的常见特征。然而，胎儿多囊肾病仅在致死性纯合子男性中被报道过。我们的观察扩展了我们对OFD I中多囊肾病表型变异的认识。
