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

页码：506 / 508

页数：2

共 48 条

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