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

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 fist...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 42; no. 3; p. 365
Main Authors Dallapiccola, B, Zelante, L, Mingarelli, R, Pellegrino, M, Bertozzi, V
Format Journal Article
LanguageEnglish
Published United States 01.02.1992
Subjects
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Arm - abnormalities
Arm - diagnostic imaging
Child
Craniosynostoses - diagnostic imaging
Craniosynostoses - genetics
Female
Humans
Intellectual Disability - genetics
Radiography
Syndrome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320420323