Tags

Type your tag names separated by a space and hit enter

The neurofaciodigitorenal (NFDR) syndrome.
Am J Med Genet. 1982 Mar; 11(3):329-36.AJ

Abstract

We describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, "cowlick," ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III ("provisionally private") MCA/MR syndrome and presumed to be due to a Mendelian (either X-linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.

Links

Publisher Full Text

Authors

Freire-Maia N
No affiliation info available
Pinheiro M
No affiliation info available
Opitz JM
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolDermatoglyphicsElectrocardiographyElectroencephalographyFaceFingersGenes, RecessiveGrowth DisordersHumansIntellectual DisabilityKidneyMaleMeiosisMutationSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7081297

Citation

Freire-Maia, N, et al. "The Neurofaciodigitorenal (NFDR) Syndrome." American Journal of Medical Genetics, vol. 11, no. 3, 1982, pp. 329-36.
Freire-Maia N, Pinheiro M, Opitz JM. The neurofaciodigitorenal (NFDR) syndrome. Am J Med Genet. 1982;11(3):329-36.
Freire-Maia, N., Pinheiro, M., & Opitz, J. M. (1982). The neurofaciodigitorenal (NFDR) syndrome. American Journal of Medical Genetics, 11(3), 329-36.
Freire-Maia N, Pinheiro M, Opitz JM. The Neurofaciodigitorenal (NFDR) Syndrome. Am J Med Genet. 1982;11(3):329-36. PubMed PMID: 7081297.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The neurofaciodigitorenal (NFDR) syndrome. AU - Freire-Maia,N, AU - Pinheiro,M, AU - Opitz,J M, PY - 1982/3/1/pubmed PY - 1982/3/1/medline PY - 1982/3/1/entrez SP - 329 EP - 36 JF - American journal of medical genetics JO - Am J Med Genet VL - 11 IS - 3 N2 - We describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, "cowlick," ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III ("provisionally private") MCA/MR syndrome and presumed to be due to a Mendelian (either X-linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7081297/The_neurofaciodigitorenal__NFDR__syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=11&issue=3&spage=329 DB - PRIME DP - Unbound Medicine ER -