Abstract
We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bernstein J., Brough A. J., McAdams A. J. The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects Orig Artic Ser. 1974;10(4):35–43. [PubMed] [Google Scholar]
- Bernstein J., Chandra M., Creswell J., Kahn E., Malouf N. N., McVicar M., Weinberg A. G., Wybel R. E. Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet. 1987 Feb;26(2):391–403. doi: 10.1002/ajmg.1320260218. [DOI] [PubMed] [Google Scholar]
- Crawfurd M. D. Renal dysplasia and asplenia in two sibs. Clin Genet. 1978 Dec;14(6):338–344. doi: 10.1111/j.1399-0004.1978.tb02099.x. [DOI] [PubMed] [Google Scholar]
- IVEMARK B. I., OLDFELT V., ZETTERSTROM R. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. Acta Paediatr. 1959 Jan;48(1):1–11. doi: 10.1111/j.1651-2227.1959.tb16011.x. [DOI] [PubMed] [Google Scholar]
- JEUNE M., BERAUD C., CARRON R. Dystrophie thoracique asphyxiante de caractère familial. Arch Fr Pediatr. 1955;12(8):886–891. [PubMed] [Google Scholar]
- MCKUSICK V. A., EGELAND J. A., ELDRIDGE R., KRUSEN D. E. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. Bull Johns Hopkins Hosp. 1964 Oct;115:306–336. [PubMed] [Google Scholar]
- Turkel S. B., Diehl E. J., Richmond J. A. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 1985 Apr;22(2):112–118. doi: 10.1136/jmg.22.2.112. [DOI] [PMC free article] [PubMed] [Google Scholar]