Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.
We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.
Ramos Fuentes
F J
FJ
Dept. Pediatria, Hospital Clínico Universitario, Zaragoza, Spain.
Nicholson
L
L
Scott
C I
CI
D000015:Abnormalities, Multiple / Q000235:genetics*; D001132:Arm / Q000002:abnormalities; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities