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Powell, Cynthia M.; Chandra, Roma S.; Saal, Howard M.

PHAVER syndrome: An autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects

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  • Medientyp: E-Artikel
  • Titel: PHAVER syndrome: An autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects
  • Beteiligte: Powell, Cynthia M.; Chandra, Roma S.; Saal, Howard M.
  • Erschienen: Wiley, 1993
  • Erschienen in: American Journal of Medical Genetics
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.1320470602
  • ISSN: 0148-7299; 1096-8628
  • Schlagwörter: Genetics (clinical)
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>p</jats:italic>terygia, <jats:italic>h</jats:italic>eart defects, <jats:italic>a</jats:italic>utosomal recessive inheritance, <jats:italic>v</jats:italic>ertebral defects, <jats:italic>e</jats:italic>ar anomalies and <jats:italic>r</jats:italic>adial defects. This represents an new autosomal recessive disorder with phenotypic variability. © 1993 Wiley‐Liss, Inc.</jats:p>