Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.
A boy is reported with the cloverleaf skull anomaly as part of the Pfeiffer syndrome. So far, this combination has only been observed in sporadic cases. However, the mother of this patient had also the syndrome of Pfeiffer, indicating that the cloverleaf skull abnormality may occur in familial cases. Development of the child after birth and therapeutic approaches are reported.
Soekarman
D
D
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
van den Berghe
H
H
D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010641:Phenotype; D013577:Syndrome