Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
In 1994, Giuffré 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 Giuffré et al.
Selicorni
Angelo
A
Clinica Pediatrica De Marchi, I Clinica Pediatrica, Milano, Italy. ambulatorio@gencli.it
Ferrarini
Alessandra
A
Cagnoli
Giacomo
G
Fratoni
Alessia
A
Bottigelli
Michaela
M
Milani
Donatella
D
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D011884:Radius / Q000002:abnormalities*; D012600:Scoliosis / Q000473:pathology; D013577:Syndrome; D013580:Synostosis / Q000473:pathology*; D014457:Ulna / Q000002:abnormalities*