Results 141 to 150 of about 1,372 (198)
“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]
American Journal of Medical Genetics, Part A, 2013 Daniela V Luquetti +2 more
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Journal of Craniofacial Surgery, 1996
In six persons with mandibulofacial dysostosis, surgical correction of the anomaly was performed at different ages using different methods. In two persons between the ages of 7 and 9 years, correction of the zygomaticomaxillary region, using rib cartilage, was performed first.
R, Roncević, D, Roncević
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In six persons with mandibulofacial dysostosis, surgical correction of the anomaly was performed at different ages using different methods. In two persons between the ages of 7 and 9 years, correction of the zygomaticomaxillary region, using rib cartilage, was performed first.
R, Roncević, D, Roncević
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Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts theHOXD gene cluster [PDF]
American Journal of Medical Genetics, Part A, 2007 Steven B Bleyl +2 more
exaly +2 more sources
American Journal of Diseases of Children, 1964
Mandibulofacial dysostosis (Treacher Collins syndrome) is a complex of congenital defects involving the face, eyelids, and ears. The "complete form" of the syndrome includes: (1) an antimongoloid slant of the palpebral fissures; (2) colobomata of the eyelids; (3) hypoplasia of the facial bones (particularly the malar bones and the mandible); (4 ...
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Mandibulofacial dysostosis (Treacher Collins syndrome) is a complex of congenital defects involving the face, eyelids, and ears. The "complete form" of the syndrome includes: (1) an antimongoloid slant of the palpebral fissures; (2) colobomata of the eyelids; (3) hypoplasia of the facial bones (particularly the malar bones and the mandible); (4 ...
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Prenatal diagnosis of mandibulofacial dysostosis
Prenatal Diagnosis, 1984AbstractFour fetuses at risk of the autosomal dominant Treacher—Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one ...
K H, Nicolaides +3 more
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Mandibulofacial dysostosis. Case report
Australian Dental Journal, 1995AbstractA case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome. Cleft of the soft palate and unerupted multiple supernumerary teeth were present in this case.
S, Anil +4 more
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Ear Deformities in Mandibulofacial Dysostosis
Acta Oto-Laryngologica, 1992Bilateral conductive deafness is common in mandibulofacial dysostosis with or without atresia of the external auditory meatus. This deafness is due to a wide range of deformities of the ossicular chain associated with a characteristic reduction in the size of the middle ear cavity. The inner ear is only occasionally affected.
G, Granström, A, Tjellström
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Oftalmologia (Bucharest, Romania : 1990), 1999
Also known as Treacher-Collins or Franceschetti-Zwahlen-Klein syndrome, the mandibulofacial dysostosis is characterized by bilateral involvement of facial structures, including malar and mandibular hypoplasia, underdeveloped zygomatic bone, antimongoloid slant and external and middle ear anomalies.
C, Moise, D, Zaboş
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Also known as Treacher-Collins or Franceschetti-Zwahlen-Klein syndrome, the mandibulofacial dysostosis is characterized by bilateral involvement of facial structures, including malar and mandibular hypoplasia, underdeveloped zygomatic bone, antimongoloid slant and external and middle ear anomalies.
C, Moise, D, Zaboş
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Mandibulofacial Dysostosis and Cornea Guttata
American Journal of Ophthalmology, 1989P. Nucci +4 more
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