PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.Am J Med Genet. 1993 Nov 01; 47(6):807-11.AJ
Abstract
We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autosomal recessive disorder with phenotypic variability.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
8279476
Citation
Powell, C M., et al. "PHAVER Syndrome: an Autosomal Recessive Syndrome of Limb Pterygia, Congenital Heart Anomalies, Vertebral Defects, Ear Anomalies, and Radial Defects." American Journal of Medical Genetics, vol. 47, no. 6, 1993, pp. 807-11.
Powell CM, Chandra RS, Saal HM. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. Am J Med Genet. 1993;47(6):807-11.
Powell, C. M., Chandra, R. S., & Saal, H. M. (1993). PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. American Journal of Medical Genetics, 47(6), 807-11.
Powell CM, Chandra RS, Saal HM. PHAVER Syndrome: an Autosomal Recessive Syndrome of Limb Pterygia, Congenital Heart Anomalies, Vertebral Defects, Ear Anomalies, and Radial Defects. Am J Med Genet. 1993 Nov 1;47(6):807-11. PubMed PMID: 8279476.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
AU - Powell,C M,
AU - Chandra,R S,
AU - Saal,H M,
PY - 1993/11/1/pubmed
PY - 1993/11/1/medline
PY - 1993/11/1/entrez
SP - 807
EP - 11
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 47
IS - 6
N2 - We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autosomal recessive disorder with phenotypic variability.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/8279476/PHAVER_syndrome:_an_autosomal_recessive_syndrome_of_limb_pterygia_congenital_heart_anomalies_vertebral_defects_ear_anomalies_and_radial_defects_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=6&spage=807
DB - PRIME
DP - Unbound Medicine
ER -