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

被引：7
作者：
Nishimura, G
Kuwashima, S
Kohno, T
Teramoto, C
Watanabe, H
Kubota, T
机构：
[1] Dokkyo Univ, Sch Med, Dept Radiol, Mibu, Tochigi 32102, Japan
[2] Dokkyo Univ, Sch Med, Dept Pediat, Mibu, Tochigi, Japan
[3] Dokkyo Univ, Sch Med, Dept Obstet, Mibu, Tochigi, Japan
[4] Shinshu Univ, Dept Hyg & Med Genet, Sch Med, Matsumoto, Nagano 390, Japan
来源：
PEDIATRIC RADIOLOGY | 1999年 / 29卷 / 07期
关键词：
Kidney Disease; Phenotypic Variation; Polycystic Kidney Disease; Syndrome Type; Polydactyly;
D O I：
10.1007/s002470050631
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
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：3
相关论文
共 8 条
  • [1] CURRY NS, 1992, UROL RADIOL, V13, P153
  • [2] ORAL-FACIAL-DIGITAL SYNDROME TYPE-I IN A NEWBORN MALE
    GILLEROT, Y
    HEIMANN, M
    FOURNEAU, C
    VERELLENDUMOULIN, C
    VANMALDERGEM, L
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (03): : 335 - 338
  • [3] A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
    Kubota, T
    Nonoyama, S
    Tonoki, H
    Masuno, M
    Imaizumi, K
    Kojima, M
    Wakui, K
    Shimadzu, M
    Fukushima, Y
    [J]. HUMAN GENETICS, 1999, 104 (01) : 49 - 55
  • [4] Odent S, 1998, AM J MED GENET, V75, P389, DOI 10.1002/(SICI)1096-8628(19980203)75:4<389::AID-AJMG8>3.0.CO
  • [5] 2-L
  • [6] CYSTIC KIDNEYS IN A PATIENT WITH ORAL-FACIAL-DIGITAL SYNDROME TYPE-I
    STAPLETON, FB
    BERNSTEIN, J
    KOH, G
    ROY, S
    WILROY, RS
    [J]. AMERICAN JOURNAL OF KIDNEY DISEASES, 1982, 1 (05) : 288 - 293
  • [7] Toriello H V, 1993, Clin Dysmorphol, V2, P95
  • [8] TUCKER CARLYN C., 1966, J MED GENET, V3, P145, DOI 10.1136/jmg.3.2.145
1