Tags

Type your tag names separated by a space and hit enter

Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
Am J Med Genet A. 2004 Aug 01; 128A(4):374-82.AJ

Abstract

Acromelic frontonasal dysostosis (AFND) represents a subgroup of patients with frontonasal malformation with limb abnormalities including preaxial polydactyly and tibial hypoplasia. Previous case reports have suggested autosomal recessive inheritance, given parental consanguinity. However, no affected siblings have been described. Longitudinal clinical history is limited as many do not survive the first years of life. The molecular basis of AFND is not known. Previous investigators have proposed that AFND may result from a perturbation in the Sonic Hedgehog pathway. We present clinical and radiographic findings in two unrelated boys, ages 8 and 9 years, with AFND, one of whom has a family history suggesting dominant inheritance. A focused study of genetic marker data and candidate gene mutation analysis in this family is presented.

Authors+Show Affiliations

Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, Washington 98195-6320, USA. ahing@u.washington.eduNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15264282

Citation

Hing, Anne V., et al. "Familial Acromelic Frontonasal Dysostosis: Autosomal Dominant Inheritance With Reduced Penetrance." American Journal of Medical Genetics. Part A, vol. 128A, no. 4, 2004, pp. 374-82.
Hing AV, Syed N, Cunningham ML. Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. Am J Med Genet A. 2004;128A(4):374-82.
Hing, A. V., Syed, N., & Cunningham, M. L. (2004). Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. American Journal of Medical Genetics. Part A, 128A(4), 374-82.
Hing AV, Syed N, Cunningham ML. Familial Acromelic Frontonasal Dysostosis: Autosomal Dominant Inheritance With Reduced Penetrance. Am J Med Genet A. 2004 Aug 1;128A(4):374-82. PubMed PMID: 15264282.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. AU - Hing,Anne V, AU - Syed,Nadia, AU - Cunningham,Michael L, PY - 2004/7/21/pubmed PY - 2005/2/19/medline PY - 2004/7/21/entrez SP - 374 EP - 82 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 128A IS - 4 N2 - Acromelic frontonasal dysostosis (AFND) represents a subgroup of patients with frontonasal malformation with limb abnormalities including preaxial polydactyly and tibial hypoplasia. Previous case reports have suggested autosomal recessive inheritance, given parental consanguinity. However, no affected siblings have been described. Longitudinal clinical history is limited as many do not survive the first years of life. The molecular basis of AFND is not known. Previous investigators have proposed that AFND may result from a perturbation in the Sonic Hedgehog pathway. We present clinical and radiographic findings in two unrelated boys, ages 8 and 9 years, with AFND, one of whom has a family history suggesting dominant inheritance. A focused study of genetic marker data and candidate gene mutation analysis in this family is presented. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15264282/Familial_acromelic_frontonasal_dysostosis:_autosomal_dominant_inheritance_with_reduced_penetrance_ L2 - https://doi.org/10.1002/ajmg.a.30091 DB - PRIME DP - Unbound Medicine ER -