Tags

Type your tag names separated by a space and hit enter

Apert syndrome with partial preaxial polydactyly.
Genet Couns. 1992; 3(2):107-9.GC

Abstract

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.

Authors+Show Affiliations

Laboratoire de Cytogénétique, C.H.R.U., Montpellier, France.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1642807

Citation

Lefort, G, et al. "Apert Syndrome With Partial Preaxial Polydactyly." Genetic Counseling (Geneva, Switzerland), vol. 3, no. 2, 1992, pp. 107-9.
Lefort G, Sarda P, Humeau C, et al. Apert syndrome with partial preaxial polydactyly. Genet Couns. 1992;3(2):107-9.
Lefort, G., Sarda, P., Humeau, C., & Rieu, D. (1992). Apert syndrome with partial preaxial polydactyly. Genetic Counseling (Geneva, Switzerland), 3(2), 107-9.
Lefort G, et al. Apert Syndrome With Partial Preaxial Polydactyly. Genet Couns. 1992;3(2):107-9. PubMed PMID: 1642807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apert syndrome with partial preaxial polydactyly. AU - Lefort,G, AU - Sarda,P, AU - Humeau,C, AU - Rieu,D, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 107 EP - 9 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 3 IS - 2 N2 - Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/1642807/Apert_syndrome_with_partial_preaxial_polydactyly_ L2 - http://www.diseaseinfosearch.org/result/544 DB - PRIME DP - Unbound Medicine ER -