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Diseases

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Papillon-leage-psaume syndrome (oro-digital-facial syndrome; linguofacial dysplasia of grob; gorlin syndrome; dysplasia linguofacialis; ofd syndrome; oro-digital-facial dysostosis; grob linguofacial dysplasia)


Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of
Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis;
Grob Linguofacial Dysplasia)

General: Familial with strong female preponderance; transmitted as a dominant; partial trisomy has been suggested for the 6-l2 (C) chromosome.

Ocular: Hypertelorism; displaced medial and lateral canthi; antimongoloid slanting of palpebral fissures; exotropia; see-saw winking.

Clinical: Clefts of jaws and tongue due to abnormalities in development of frenulum; syndactyly; polydactyly; alopecia; white, hamartomatous patches of midline of tongue; mental retardation; bradydactyly; hypoplastic nasal cartilages; seborrheic changes; dystopia canthus; pseudocleft of upper lip; alopecia; missing mandibular lateral incisors.

Gorlin RJ, Psaume J. Orodigitofacial dysostosis: a new syndrome. J Pediatr 1962; 61:

Grob M. Dysplasia linguo-facialis. In: Lehrbuch der kinderheikunde. Stuttgart: Thieme, 1957:98.

Papillon-Leage E, Psaume J. Une malformation hereditaire de la mugueuse buccale brides et freins anormaux: Generalites. Rev Stomatol 1954; 55:209-227.

Sugarman GI, et al. See-saw winking in a familial oral-facial digital syndrome. Clin Genet 1971; 2:248.




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