Family Resource Network
[Article in Italian]
Beluffi G, Pazzaglia UE, Fiori P, Pricca P, Poznanski AK.
Sezione di Radiopediatria, IRCCS Policlinico S. Matteo, Pavia.
Oto-palato-digital (OPD) or Taybi 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.
PMID: 3659425 [PubMed - indexed for MEDLINE]