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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.

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Authors+Show Affiliations

Powell CM
Department of Medical Genetics, Children's National Medical Center, George Washington University School of Medicine, Washington, District of Columbia.
Chandra RS
No affiliation info available
Saal HM
No affiliation info available

MeSH

Abnormalities, MultipleAbortion, InducedAdultFemaleFetusGenes, RecessiveHeart Defects, CongenitalHumansInfant, NewbornMalePregnancySyndrome

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 -