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Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.
Genet Couns. 1992; 3(4):217-20.GC

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.

Authors+Show Affiliations

Soekarman D
Center for Human Genetics, University of Leuven, Belgium.
Fryns JP
No affiliation info available
van den Berghe H
No affiliation info available

MeSH

AcrocephalosyndactyliaChromosome AberrationsChromosome DisordersCraniosynostosesFemaleGenes, DominantHumansInfantMaleMiddle AgedNeurologic ExaminationPhenotypeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1472357

Citation

Soekarman, D, et al. "Pfeiffer Acrocephalosyndactyly Syndrome in Mother and Son With Cloverleaf Skull Anomaly in the Child." Genetic Counseling (Geneva, Switzerland), vol. 3, no. 4, 1992, pp. 217-20.
Soekarman D, Fryns JP, van den Berghe H. Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. Genet Couns. 1992;3(4):217-20.
Soekarman, D., Fryns, J. P., & van den Berghe, H. (1992). Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. Genetic Counseling (Geneva, Switzerland), 3(4), 217-20.
Soekarman D, Fryns JP, van den Berghe H. Pfeiffer Acrocephalosyndactyly Syndrome in Mother and Son With Cloverleaf Skull Anomaly in the Child. Genet Couns. 1992;3(4):217-20. PubMed PMID: 1472357.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. AU - Soekarman,D, AU - Fryns,J P, AU - van den Berghe,H, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 217 EP - 20 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 3 IS - 4 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/1472357/Pfeiffer_acrocephalosyndactyly_syndrome_in_mother_and_son_with_cloverleaf_skull_anomaly_in_the_child_ DB - PRIME DP - Unbound Medicine ER -