[Oto-palato-digital syndrome. Clinico-radiological study].
Oto-palato-digital (OPD) or Tyabi syndrome is a familiar, X-linked bone dysplasia with intermediate expression, in females or autosomal dominant with more severe manifestations in males. In the past both the clinical features (flat face with sunken and broad nasal bridge, antimongoloid slant of palpebral fissures, palatoschysis, conductive deafness, short and broad thumbs and big toes, nail dystrophy) and radiological findings (thick and dense base of the skull, prominence of supraorbital ridges, middle ear bone deformities with dense ossicles, large and broad vertebral bodies, posterior defects of neural arches of the vertebrae, carpal and tarsal bone fusions, short and broad nail phalanges) have been well described and established. The present report describes 7 patients (4 females and 3 males) all belonging to the same family (the first described in this country) and all presenting the clinical and radiological features of OPD syndrome. A cranial and spinal CT was performed on one patient, with peculiar findings.
Beluffi
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G
Sezione di Radiopediatria, IRCCS Policlinico S. Matteo, Pavia.
Pazzaglia
U E
UE
Fiori
P
P
Pricca
P
P
Poznanski
A K
AK
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000368:Aged; D002648:Child; D002972:Cleft Palate / Q000150:complications; D004432:Ear, Middle / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
La sindrome oto-palato-digitale (OPD). Studio clinico-radiologico.