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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

Belengeanu V
Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania. belvtim@yahoo.com
Rozsnyai K
No affiliation info available
Farcaş S
No affiliation info available
Velea I
No affiliation info available
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleAdultBone Diseases, DevelopmentalChildChromosome AberrationsCraniofacial AbnormalitiesDermatoglyphicsDiagnosis, DifferentialDwarfismFaciesFemaleGenes, DominantGenetic Carrier ScreeningGenetic VariationHumansIntellectual DisabilityMaleMiddle AgedPhenotypeSyndrome

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://www.unboundmedicine.com/medline/citation/16080297/Familial_transmission_of_a_dysmorphic_syndrome:_a_variant_example_of_Kabuki_syndrome DB - PRIME DP - Unbound Medicine ER -