Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome

Acta Derm Venereol. 2013 Sep 4;93(5):579-80. doi: 10.2340/00015555-1526.

Authors

Takuya Takeichi¹, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama

Affiliation

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Japan.

PMID: 23450279
DOI: 10.2340/00015555-1526

No abstract available

Publication types

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

MeSH terms

Aldehyde Oxidoreductases / genetics
Anal Canal / abnormalities*
Child, Preschool
DNA Mutational Analysis
Esophagus / abnormalities*
Female
Genetic Predisposition to Disease
Heart Defects, Congenital / complications*
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics
Heredity
Humans
Infant
Kidney / abnormalities*
Limb Deformities, Congenital / complications*
Limb Deformities, Congenital / diagnosis
Limb Deformities, Congenital / genetics
Male
Mutation
Pedigree
Phenotype
Sjogren-Larsson Syndrome / complications*
Sjogren-Larsson Syndrome / diagnosis
Sjogren-Larsson Syndrome / genetics
Spine / abnormalities*
Trachea / abnormalities*

Substances

Aldehyde Oxidoreductases
long-chain-aldehyde dehydrogenase

Supplementary concepts

VACTERL association