Ischiospinal dysostosis with rib gaps and nephroblastomatosis

Clinical Dysmorphology

Volumn 10, Issue 1, 2001, Pages 19-23

  Spranger, J ^a,c   Self, S ^b   Clarkson, K B ^a   Pai, G S ^b  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

Ischial hypoplasia; Ischiospinal dysostosis; Nephroblastomatosis; Rib gaps; Vertebral defects

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; DYSOSTOSIS; HUMAN; INFANT; KIDNEY BIOPSY; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; MALE; NEPHROBLASTOMA; NEWBORN; PRIORITY JOURNAL; RIB MALFORMATION; VERTEBRA MALFORMATION;

EID: 0035168345     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200101000-00004     Document Type: Article

References (11)

1. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor
2. Unknown syndrome: Ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies
3. Ischio-vertebral dysplasia: A distinct entity
4. Perlman syndrome: Four additional cases and review
5. Small patella syndrome
6. Cancer of the kidney and urogenital tract
7. A new syndrome comprising vertebral anomalies and multicystic kidneys
8. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: A new syndrome?
9. Ischio-spinal dysostosis: A previously unrecognised combination of malformations
10. Cerebro-costo-mandibular syndrome
11. The cerebro-costo-mandibular syndrome: Seven patients and review of the literature