Fetal polycystic kidney disease in oro-facio-digital syndrome type I

被引：0
|
作者：
G. Nishimura
Shigeko Kuwashima
Tatsuo Kohno
Chie Teramoto
Hiroshi Watanabe
Takeo Kubota
机构：
[1] Department of Radiology,
[2] Dokkyo University School of Medicine,undefined
[3] 880 Kitakobayashi,undefined
[4] Mibu,undefined
[5] Shimotsuga-gun,undefined
[6] Tochigi-ken 321–02,undefined
[7] Japan,undefined
[8] Department of Pediatrics,undefined
[9] Dokkyo University School of Medicine,undefined
[10] Tochigi,undefined
[11] Japan,undefined
[12] Department of Obstetrics,undefined
[13] Dokkyo University School of Medicine,undefined
[14] Tochigi,undefined
[15] Japan,undefined
[16] Department of Hygiene and Medical Genetics,undefined
[17] Shinshu University School of Medicine,undefined
[18] Matsumoto,undefined
[19] Japan,undefined
来源：
Pediatric Radiology | 1999年 / 29卷
关键词：
Kidney Disease; Phenotypic Variation; Polycystic Kidney Disease; Syndrome Type; Polydactyly;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：506 / 508
页数：2
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