Oral manifestations of systemic genetic disorders. 4.
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Abnormalities, Multiple↗
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Results for “MANDIBULOFACIAL DYSOSTOSIS”
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Treacher Collins syndrome and achalasia.
Achalasia is often a familial disease and may be inherited in association with other familial defects. I report a patient born with a familial facial dysostosis, Treacher Collins syndrome, who also has achalasia to propose that these two defects are associated familial disorders in this patient.
Adult↗
Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?
We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical pre/postaxial acrofacial dysostosis, nosologically related to the Genée-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.
Abnormalities, Multiple↗
Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.
We describe a 24-year-old woman with tetramelic ectrodactyly, mandibulo-facial dysostosis and cleft uvula. This rare association has previously been reported in two families, but with ectrodactyly affecting only the feet. We propose the new term ectrodactyly-mandibulo-facial dysostosis for this entity.
Adult↗
Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi.
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Abnormalities, Multiple↗
Nager acrofacial dysostosis: male-to-male transmission in 2 families.
We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father-to-son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations.
Abnormalities, Multiple↗
[Immunological reactivity and serum biochemical indices in patients with otofacial dysostosis (first and second arch syndrome)].
The examination of 50 patients aged from 6 to 35 has first revealed a pronounced disorder of the indices of immunity and biochemical composition of blood (decreased level of aminotransferases, cholesterol, increased content of alkaline phosphatase) in patients with otomandibular dysostosis.
Adolescent↗
Hereditary deafness in man.
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Abnormalities, Multiple↗
[Musculoskeletal connections. Study of two cases of oto-mandibular dysplasia].
The current genetic data stress the importance of musculo-skeletal connections in the development of a coherent system connecting the tendons and aponeurosis muscles with the osseous parts. The observations in tomodensitometry of musculo-skeletal connections in otomandibular dysostosis make it possible qualitatively to observe the development of the muscles and their functions.
Adolescent↗
Postaxial acrofacial dysostosis: report of a Brazilian patient.
We report on a Brazilian child with postaxial acrofacial dysostosis (AFD)-type Genée-Wiedemann. Clinical and genetic aspects of the postaxial acrofacial dysostoses are discussed.
Abnormalities, Multiple↗
[An extensive form of mandibulo-facial dysostosis (Franceschetti) with malformations of the extremities and other congenital anomalies in a girl whose brother presents only an incomplete form of the syndrome (fistula auris congenita retrotragica)].
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Abnormalities, Multiple↗
Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients.
We describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri-Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996.
Adult↗
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.
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Abnormalities, Multiple↗
Cranio-facial dysmorphism: experimental study in the mouse, clinical applications.
To obtain a better understanding of mandibulo-facial dysostosis and hemicraniofacial microsomia in man, the authors carried out a histologic and scanning electron microscope study of the facial malformations produced in mouse embryos by retinoic acid and methyl-triazene. The administration of 400 mg/kg 13 cis-retinoic acid (RA) to pregnant C57BL mice on day 9 of gestation produced anomalies of the cephalic extremity in the embryos resembling human mandibulo-facial dysostosis. The 64 embryos collected presented hypoplasia of the branchial arches or the snout in 79% of cases, auricular anomalies in 47% and ophthalmic anomalies in 12.5%. Fourteen NMRI mice on day 10.5 of gestation were treated with 1.5 mg (0.5 mg/kg) methyl-triazene (Methyl). The 126 embryos collected had developed a very high percentage of micromandibles and anomalies of both embryonic ears (94.6% to 100%). Finally, although the facial anomalies produced by retinoic acid resemble the human mandibulo-facial dysostosis syndrome, no correlation was found between hemicraniofacial microsomia and the administration of methyl-triazene.
Abnormalities, Drug-Induced↗
The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.
A 10-year-old girl with the Nagar acrofacial dysostosis syndrome and normal intelligence is presented. Severe conductive hearing loss remains the major handicap. It is suggested that her syndrome is due to a dominant gene mutation.
Child↗
Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. In addition to the characteristic facial and limb defects, previously undescribed anomalies, including midgut malrotation, gastric volvulus, and renal anomalies, are recorded.
Adult↗
Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis.
A new case of Miller's syndrome is reported and the characteristic features are described along with a brief outline of related conditions. The anaesthetic management is discussed and the problems which may be encountered when dealing with this syndrome are highlighted.
Abnormalities, Multiple↗
Hallermann-Streiff syndrome.
Blodi (1957) and François (1958) recognized this syndrome as a distinct entity differing from the mandibulo-facial dysostosis (Franceschetti's syndrome). Although there are approximately 60 cases reported in the literature, only very few cases have been obtained for histological study. A report of a case with ophthalmopathological examination is given.
Eye↗