[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?]
- PMID: 3309184
[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?]
Abstract
The occurrence of a polymalformation pattern associated with a polydactyly indicates a mendelian inheritance. We report a case with renal hypoplasia, polydactyly, congenital heart defects. A large literature review makes the differential diagnosis and brings this case nearer to an anterior observation of the literature. We discuss an eventual new syndrome with autosomal recessive inheritance.
Similar articles
-
[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?].J Genet Hum. 1988 Dec;36(5):463-8. J Genet Hum. 1988. PMID: 3216192 French.
-
[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis].J Genet Hum. 1984 Jun;32(2):129-36. J Genet Hum. 1984. PMID: 6736938 French.
-
Familial holoprosencephaly, heart defects, and polydactyly.Am J Med Genet. 1991 Nov 1;41(2):258-62. doi: 10.1002/ajmg.1320410226. Am J Med Genet. 1991. PMID: 1785646 Review.
-
Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.Am J Med Genet. 1983 Mar;14(3):423-8. doi: 10.1002/ajmg.1320140304. Am J Med Genet. 1983. PMID: 6859093
-
On the biologic nature of associations: evidence from a study of radial ray deficiencies and associated malformations.Birth Defects Orig Artic Ser. 1993;29(1):63-81. Birth Defects Orig Artic Ser. 1993. PMID: 8280894 Review. No abstract available.
Publication types
MeSH terms
LinkOut - more resources
Medical