منابع مشابه
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.
Two brothers with congenital conductive hearing loss and phenotypic characteristics of maxillofacial dysostosis are described. In the oldest boy a malformed ossicular chain was present and the conductive hearing loss was improved by a malleo-vestibulo-pexy, with post-operative hearing gain of approximately 30 dB. Although superficially similar to Treacher Collins syndrome, the facial characteri...
متن کاملMetaphysial Dysostosis, Type Schmid.
It is interesting to note the way in which medical knowledge has developed over the years with regard to diseases superficially akin to classical rickets. The first stage followed as a result of the disappearance, owing to the improved knowledge of nutrition, of classical rickets as a common source of bony deformity. This led to the clearer recognition of the remaining 'resistant' forms of rick...
متن کاملA Case of Craniocleido-Dysostosis
A Muslim boy of 15 years came in September 1946 for a sinus under his chin of 3 years' duration. He had a carious molar tooth in the lower row, which was responsible for the sinus. The sinus was scraped and the tooth removed. This resulted in closure of sinus within a few days. While he was under treatment for the sinus, it was accidentally revealed that he had no fully developed clavicles and ...
متن کاملMandibulo - Facial Dysostosis * by Allan
THE first recorded cases of this comparatively rare congenital anomaly were reported by Berry (1889), but it was not until 11 years later that Collins (1900) recognized that the condition occurred as a syndrome. Further cases in Great Britain have been described by Mann and Kilner (1943) and Johnstone (1943). The clinical picture varies considerably from case to case and atypical, incomplete an...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.5.355