Article
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Soekarman D, Fryns J P, van den Berghe H
Abstract excerpt
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 ca...
Topics
- Acrocephalosyndactylia
- Chromosome Aberrations
- Chromosome Disorders
- Craniosynostoses
- Female
- Genes, Dominant
- Humans
- Infant
- Male
- Middle Aged
- Neurologic Examination
- Phenotype
- Syndrome