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 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.
Dallapiccola
B
B
Department of Public Health and Cell Biology, Tor Vergata, Italy.
Zelante
L
L
Mingarelli
R
R
Pellegrino
M
M
Bertozzi
V
V
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D011859:Radiography; D013577:Syndrome