[Crouzon's craniofacial dysostosis].
A brief account of craniofacial synostosis is presented. The cranium is acrocephalic owing to the early closure of the coronal and lambdoid sutures. The crown is typically rudimentary where the anterior fontanel is still open. Cranial radiography shows digitate markings. Skeletal changes lead to hypertelorism, exophthalmos and strabismus. The nose is of the parrot's beak type and the hypoplasic upper jaw is in contrast with the lower jaw, resulting in pseudo-prognathism. These basic malformations are accompanied by several other deformities. The disease may appear as a hereditary or as a sporadic occurrence. The cases described in the present paper confirm the hereditary interpretation of the syndrome, since both were accompanied by positive familial histories. In the first case, the signs of the disease were less evident, whereas in the second the picture was complete and both mother and daughter presented impressive examples of the frog face sign.
Spada
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A
Ospedale Civile S. Croce di Cuneo, Divisione Pediatrica.
Ambrosiani
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S
D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype