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- Title
Sporadic VACTERL Association in a Japanese Family with Sjögren-Larsson Syndrome.
- Authors
Takeichi, Takuya; Sugiura, Kazumitsu; Arai, Hidee; Ken Ishii; Kono, Michihiro; Akiyama, Masashi
- Abstract
The article describes the case of a 2.5-year-old Japanese boy with a combination of associated defects and genetically diagnosed Sjögren-Larsson syndrome. Named using the acronym VACTERL, the associated conditions included vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac malfunctions and limb anomalies. The findings of the physical and laboratory examinations performed on the patient are explored.
- Subjects
GENETIC disorders; JUVENILE diseases; JAPANESE people; DISEASES
- Publication
Acta Dermato-Venereologica, 2013, Vol 93, Issue 5, p579
- ISSN
0001-5555
- Publication type
Case Study
- DOI
10.2340/00015555-1526