Variable expression in Pfeiffer syndrome.
Open Access
- 1 February 1981
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (1) , 73-75
- https://doi.org/10.1136/jmg.18.1.73
Abstract
A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features with strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation of Pfeiffer syndrome is possible and suggests that without detailed investigation mildly affected subjects can remain undiagnosed, which may lead to erroneous genetic counselling.Keywords
This publication has 6 references indexed in Scilit:
- The acrocephalosyndactyly syndromes: A metacarpophalangeal pattern profile analysisClinical Genetics, 2008
- On the classification of the acrocephalosyndactyly syndromesClinical Genetics, 1977
- Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindredThe Journal of Pediatrics, 1976
- An etiologic and nosologic overview of craniosynostosis syndromes.1975
- [DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA].1964
- Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*Annals of Human Genetics, 1959