Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).
The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.
Galea
P
P
Division of Medical Paediatrics, Royal Hospital for Sick Children, Yorkhill, Glasgow.
Tolmie
J L
JL
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome