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

Pediatric Radiology

Volumn 29, Issue 7, 1999, Pages 506-508

  Nishimura, Gen ^a   Kuwashima, Shigeko ^a   Kohno, Tatsuo ^a   Teramoto, Chie ^a   Watanabe, Hiroshi ^a   Kubota, Takeo ^b  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; DYSOSTOSIS; FACE DYSMORPHIA; FEMALE; FETUS ECHOGRAPHY; HAMARTOMA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KIDNEY POLYCYSTIC DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PRIORITY JOURNAL; TONGUE TUMOR;

FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; OROFACIODIGITAL SYNDROMES; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; ULTRASONOGRAPHY, PRENATAL;

EID: 0033011669     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050631     Document Type: Article

References (7)

1. Toriello HV (1993) Oral-facial-digital syndrome, 1992. Clin Dysmorphol 2: 95-105
2. Stapleton FB, Bernstein J, Koh G, et al (1982) Cystic kidneys in a patient with oral-facial-digital syndrome type I. Am J Kidney Dis 1: 288-293
3. Odent S, Le Marec B, Toutain A, et al (1998) Central nervous system malformations and early end-stage renal disease in oro-facial-digital syndrome type I: a review. Am J Med Genet 75: 389-394
4. Curry NS, Milutinovic J, Grossnickle M, et al (1992) Renal cystic disease associated with orofaciodigital syndrome. Urol Radiol 13: 153-157
5. Kubota T, Nonoyama S, Tonoki H, et al (1999) A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 104: 49-55
6. Gillerot Y, Heimann M, Fourneau C, et al (1993) Oral-facial-digital syndrome type I in a newborn male. Am J Med Genet 46: 335-338
7. Tucker CC, Finley SC, Tucker ES, et al (1966) Oral-facial-digital syndrome with polycystic kidneys and liver: pathological and cytogenetic studies. J Med Genet 3: 145-147