Baller-Gerold syndrome: Case report and clinical and radiological review

B. Dallapiccola, L. Zelante, R. Mingarelli, M. Pellegrino, V. Bertozzi

Research output: Contribution to journalArticlepeer-review

Abstract

The major manifestations of the Baller-Gerold syndrome (BGS) are craniosynostosis and preaxial limb anomaly involving the radius and/or the thumb. We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. This patient also had some minor oral-facial anomalies, severe nonfamilial myopia, bilateral conductive hearing loss, ureteric reflux, and skeletal anomalies other than those noted in the skull and upper limbs. This patient confirms the clinical variability among the patients and the wide pleiotropic effects of the BGS gene.

Original languageEnglish
Pages (from-to)365-368
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume42
Issue number3
Publication statusPublished - 1992

Keywords

  • anal anomaly
  • autosomal recessive inheritance
  • craniosynostosis
  • radial hypoplasia

ASJC Scopus subject areas

  • Genetics(clinical)

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