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Lengthening the Human Mandible by Gradual Distraction
Published in Niall MH McLeod, Peter A Brennan, 50 Landmark Papers every Oral & Maxillofacial Surgeon Should Know, 2020
David M McGoldrick, Kevin McMillan
The first patient was treated at 23 months for right hemifacial microsomia. An expansion of 18 mm was achieved which was stable at 17 months. The second patient underwent bilateral distraction at age 8 years and 2 months for Nager syndrome. Expansions of 24 mm and 22 mm respectively were achieved; however, a relapse of 5 mm was reported at 9 months. The patient, the oldest treated, reported normal lip sensation, although their scars were deemed to be unsatisfactory.
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Severity of the facial abnormality in mandibulofacial dysostosis varies greatly but inheritance is autosomal dominant, with the treacle (TCOF1) gene on chromosome 5 being the most important of several genes. Deafness is a common feature in addition to external ear defects; mental retardation is said to occur but is possibly an artefact of ascertainment. Potential parents will tend to be more mildly affected than average and must be warned that an affected child could be considerably more severely affected. High-resolution ultrasonography can detect severe cases. A separate syndrome of mandibulofacial dysostosis with preaxial limb defects (Nager syndrome) usually follows autosomal recessive inheritance.
Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Nager syndrome (TCS phenotype with preaxial limb abnormalities) Proximal radioulnar synostosis, thumb hypoplasia or aplasia
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation
Published in Ophthalmic Genetics, 2018
Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Mennat I. Mehrez, Ahmad M. Kamal, Mohamed B. Taher, Hanan H. Afifi
When associated with ear anomalies, this permits the delineation of a smaller number of syndromes such as the oculo-auriculo-vertebral spectrum, Nance-Horan syndrome (cataracts-oto-dental), Treacher–Collins, and Nager syndrome(1). However, the characteristic anomalies of the ear pinnae could point out to the diagnosis of oculoauricular syndrome (OAS) although very rare. Only two families with OAS have been reported so far (2,3).