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

1992; Wiley; Volume: 42; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320420323

1096-8628

Bruno Dallapiccola, Leopoldo Zelante, Rita Mingarelli, Michele Pellegrino, Vincenzo Bertozzi,

Urological Disorders and Treatments

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 oralfacial 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.