Tags

Type your tag names separated by a space and hit enter

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
Genet Couns. 2005; 16(2):167-71.GC

Abstract

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and visceral abnormalities. The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder.

Authors+Show Affiliations

Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania. belvtim@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16080297

Citation

Belengeanu, V, et al. "Familial Transmission of a Dysmorphic Syndrome: a Variant Example of Kabuki Syndrome?" Genetic Counseling (Geneva, Switzerland), vol. 16, no. 2, 2005, pp. 167-71.
Belengeanu V, Rozsnyai K, Farcaş S, et al. Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? Genet Couns. 2005;16(2):167-71.
Belengeanu, V., Rozsnyai, K., Farcaş, S., Velea, I., & Fryns, J. P. (2005). Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? Genetic Counseling (Geneva, Switzerland), 16(2), 167-71.
Belengeanu V, et al. Familial Transmission of a Dysmorphic Syndrome: a Variant Example of Kabuki Syndrome. Genet Couns. 2005;16(2):167-71. PubMed PMID: 16080297.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? AU - Belengeanu,V, AU - Rozsnyai,K, AU - Farcaş,S, AU - Velea,I, AU - Fryns,J P, PY - 2005/8/6/pubmed PY - 2006/1/13/medline PY - 2005/8/6/entrez SP - 167 EP - 71 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 16 IS - 2 N2 - Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and visceral abnormalities. The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/16080297/Familial_transmission_of_a_dysmorphic_syndrome:_a_variant_example_of_Kabuki_syndrome L2 - http://www.diseaseinfosearch.org/result/3945 DB - PRIME DP - Unbound Medicine ER -