Tags

Type your tag names separated by a space and hit enter

Daughter and her mildly affected father with Keipert syndrome.
Am J Med Genet A. 2006 Nov 15; 140(22):2488-92.AJ

Abstract

A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.

Links

Publisher Full Text

Authors+Show Affiliations

Dumic M
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia. drdumic@mef.hr
Kokic DD
No affiliation info available
Matic T
No affiliation info available
Potocki K
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildCraniofacial AbnormalitiesFemaleFinger PhalangesGenes, DominantHearing Loss, SensorineuralHumansLimb Deformities, CongenitalPedigreePhenotypeSyndromeToe Phalanges

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17036315

Citation

Dumic, Miroslav, et al. "Daughter and Her Mildly Affected Father With Keipert Syndrome." American Journal of Medical Genetics. Part A, vol. 140, no. 22, 2006, pp. 2488-92.
Dumic M, Kokic DD, Matic T, et al. Daughter and her mildly affected father with Keipert syndrome. Am J Med Genet A. 2006;140(22):2488-92.
Dumic, M., Kokic, D. D., Matic, T., & Potocki, K. (2006). Daughter and her mildly affected father with Keipert syndrome. American Journal of Medical Genetics. Part A, 140(22), 2488-92.
Dumic M, et al. Daughter and Her Mildly Affected Father With Keipert Syndrome. Am J Med Genet A. 2006 Nov 15;140(22):2488-92. PubMed PMID: 17036315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Daughter and her mildly affected father with Keipert syndrome. AU - Dumic,Miroslav, AU - Kokic,Durda Dovzak, AU - Matic,Toni, AU - Potocki,Kristina, PY - 2006/10/13/pubmed PY - 2007/1/16/medline PY - 2006/10/13/entrez SP - 2488 EP - 92 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 140 IS - 22 N2 - A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/17036315/Daughter_and_her_mildly_affected_father_with_Keipert_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.31489 DB - PRIME DP - Unbound Medicine ER -