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

[1] Fetal polycystic kidney disease in oro-facio-digital syndrome type I
Nishimura, G
Kuwashima, S
Kohno, T
Teramoto, C
Watanabe, H
Kubota, T
PEDIATRIC RADIOLOGY, 1999, 29 (07) : 506 - 508
[2] Oro-facio-digital syndrome type 1: case report
Karaman, Ali
Kahveci, Hasan
Biyik, Yasemin Cayir
MEDICAL JOURNAL OF BAKIRKOY, 2011, 7 (03) : 119 - 121
[3] Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: Is it a new variant of Oro-Facio-Digital Syndrome?
Okten, A
Mungan, I
Orhan, F
Cakir, M
GENETIC COUNSELING, 2005, 16 (01): : 101 - 105
[4] RECURRENT FETAL POLYCYSTIC KIDNEY DISEASE
Anwar, Sadia
Ahmad, Sajjad
GOMAL JOURNAL OF MEDICAL SCIENCES, 2013, 11 (01): : 120 - 121
[5] Oral-facial-digital syndrome type I: An unusual cause of hereditary cystic kidney disease
Scolari, F
Valzorio, B
Carli, O
Vizzardi, V
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Grazioli, L
Bondioni, MP
Savoldi, S
Maiorca, R
NEPHROLOGY DIALYSIS TRANSPLANTATION, 1997, 12 (06) : 1247 - 1250
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Yu-Peng Liu
Sho-Jen Cheng
Shin-Lin Shih
Jon-Kway Huang
Pediatric Radiology, 2006, 36 : 169 - 169
[7] Caroli's syndrome and adult polycystic kidney disease
Shedda, Susan
Robertson, Amanda
ANZ JOURNAL OF SURGERY, 2007, 77 (04) : 292 - 294
[8] Nephrotic syndrome and IgA nephropathy in polycystic kidney disease
Hiura T.
Yamazaki H.
Saeki T.
Kawabe S.
Ueno M.
Nishi S.
Miyamura S.
Gejyo F.
Clinical and Experimental Nephrology, 2006, 10 (2) : 136 - 139
[9] Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: Clinical, radiological and histopathological features of a new kindred
Feather, SA
Winyard, PJD
Dodd, S
Woolf, AS
NEPHROLOGY DIALYSIS TRANSPLANTATION, 1997, 12 (07) : 1354 - 1361
[10] Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type I
Tazon-Vega, Barbara
Vilardell, Mireia
Perez-Oller, Laureano
Ars, Elisabet
Ruiz, Patricia
Devuyst, Olivier
Lens, Xose
Fernandez-Llama, Patricia
Ballarin, Jose
Torra, Roser
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2007, 22 (06) : 1567 - 1577

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