Genet Couns. 1992;3(4):217-20.

Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.

Soekarman D, Fryns JP, van den Berghe H.

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Center for Human Genetics, University of Leuven, Belgium.

Abstract

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.

PMID:: 1472357; [PubMed - indexed for MEDLINE]

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Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? [J Med Genet. 1989]
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Cited by 1 PubMed Central article

Review Pfeiffer syndrome. [Orphanet J Rare Dis. 2006]
Review Pfeiffer syndrome.
Vogels A, Fryns JP. Orphanet J Rare Dis. 2006 Jun 1; 1:19. Epub 2006 Jun 1.

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