LA SINDROME OTO-PALATO-DIGITALE (OPD). STUDIO CLINICO-RADIOLOGICO

Translated title of the contribution: Oto-palato-digital syndrome (OPD). Clinical-radiological study

G. Beluffi, U. E. Pazzaglia, P. Fiori, P. Pricca, A. K. Poznanski

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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.

Original languageItalian
Pages (from-to)176-184
Number of pages9
JournalRadiologia Medica
Volume74
Issue number3
Publication statusPublished - 1987

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Nails
Developmental Bone Disease
Tarsal Bones
Hallux
Carpal Bones
Thumb
Skull Base
Deafness
Middle Ear
Eyelids
Nose
Spine
Bone and Bones
Clinical Studies

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Beluffi, G., Pazzaglia, U. E., Fiori, P., Pricca, P., & Poznanski, A. K. (1987). LA SINDROME OTO-PALATO-DIGITALE (OPD). STUDIO CLINICO-RADIOLOGICO. Radiologia Medica, 74(3), 176-184.

LA SINDROME OTO-PALATO-DIGITALE (OPD). STUDIO CLINICO-RADIOLOGICO. / Beluffi, G.; Pazzaglia, U. E.; Fiori, P.; Pricca, P.; Poznanski, A. K.

In: Radiologia Medica, Vol. 74, No. 3, 1987, p. 176-184.

Research output: Contribution to journalArticle

Beluffi, G, Pazzaglia, UE, Fiori, P, Pricca, P & Poznanski, AK 1987, 'LA SINDROME OTO-PALATO-DIGITALE (OPD). STUDIO CLINICO-RADIOLOGICO', Radiologia Medica, vol. 74, no. 3, pp. 176-184.
Beluffi, G. ; Pazzaglia, U. E. ; Fiori, P. ; Pricca, P. ; Poznanski, A. K. / LA SINDROME OTO-PALATO-DIGITALE (OPD). STUDIO CLINICO-RADIOLOGICO. In: Radiologia Medica. 1987 ; Vol. 74, No. 3. pp. 176-184.
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