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Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis
- Source :
- American journal of medical genetics. Part A. (2)
- Publication Year :
- 2004
-
Abstract
- In 1994, Giuffre et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffre et al.
- Subjects :
- Male
Microcephaly
Ulna
Scoliosis
Short stature
Intellectual Disability
Genetics
medicine
Humans
Abnormalities, Multiple
Genetics (clinical)
In Situ Hybridization, Fluorescence
S syndrome
business.industry
Anatomy
Syndrome
Synostosis
medicine.disease
body regions
Radius
Child, Preschool
Karyotyping
medicine.symptom
Congenital disease
business
Subjects
Details
- ISSN :
- 15524825
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....f3feb4c4e71564c6e84a4b46548177f2