Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis

In 1994, Giuffrè 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‐u...

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Published in:American journal of medical genetics 2005-01, Vol.132A (2), p.189-190
Main Authors: Selicorni, Angelo, Ferrarini, Alessandra, Cagnoli, Giacomo, Fratoni, Alessia, Bottigelli, Michaela, Milani, Donatella
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Child, Preschool
General aspects. Genetic counseling
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - pathology
Karyotyping
Male
Malformations of the nervous system
Medical genetics
Medical sciences
microcephaly
Microcephaly - pathology
Neurology
radio‐ulnar synostosis
Radius - abnormalities
Scoliosis - pathology
Syndrome
Synostosis - pathology
Tsukahara's syndrome
Ulna - abnormalities
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Summary:In 1994, Giuffrè 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 Giuffrè et al. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.30415