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Year Number of Results
1969 1
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1981 1
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1990 1
1991 1
1994 1
1995 2
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1998 3
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2008 5
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2012 3
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2015 4
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54 results

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The following term was not found in PubMed: imperfecta-microcephaly-cataracts
Page 1
Treacher Collins Syndrome.
Aljerian A, Gilardino MS. Aljerian A, et al. Clin Plast Surg. 2019 Apr;46(2):197-205. doi: 10.1016/j.cps.2018.11.005. Epub 2019 Jan 30. Clin Plast Surg. 2019. PMID: 30851751 Review.
Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. ...
Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. ...
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ. Barron MJ, et al. Orphanet J Rare Dis. 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. Orphanet J Rare Dis. 2008. PMID: 19021896 Free PMC article. Review.
Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes enco …
Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations a …
Craniofacial Microsomia.
Birgfeld C, Heike C. Birgfeld C, et al. Clin Plast Surg. 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. Clin Plast Surg. 2019. PMID: 30851752 Review.
Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome …
Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second …
Glossoptosis.
Schweiger C, Manica D, Kuhl G. Schweiger C, et al. Semin Pediatr Surg. 2016 Jun;25(3):123-7. doi: 10.1053/j.sempedsurg.2016.02.002. Epub 2016 Feb 18. Semin Pediatr Surg. 2016. PMID: 27301596 Review.
Despite several attempts to classify severity in Robin Sequence patients, taking into account symptoms, presence of concomitant syndromes or malformations, and even endoscopic findings, there is still no general consensus. ...
Despite several attempts to classify severity in Robin Sequence patients, taking into account symptoms, presence of concomitant syndromes …
Neonatal Mandibular Distraction.
Perrino MA. Perrino MA. Atlas Oral Maxillofac Surg Clin North Am. 2022 Mar;30(1):57-62. doi: 10.1016/j.cxom.2021.11.001. Atlas Oral Maxillofac Surg Clin North Am. 2022. PMID: 35256110 Review. No abstract available.
Imaging the craniocervical junction.
Smoker WR, Khanna G. Smoker WR, et al. Childs Nerv Syst. 2008 Oct;24(10):1123-45. doi: 10.1007/s00381-008-0601-0. Epub 2008 May 7. Childs Nerv Syst. 2008. PMID: 18461336 Review.
Atlas anomalies predominantly involve the posterior arch, while the os odontoideum accounts for the majority of axis anomalies. RESULTS AND DISCUSSION: A number of syndromes are associated with CVJ pathology, the most notable being Klippel-Feil and Down syndromes, a …
Atlas anomalies predominantly involve the posterior arch, while the os odontoideum accounts for the majority of axis anomalies. RESULTS AND …
Osteogenesis imperfecta in the neonate.
Hackley L, Merritt L. Hackley L, et al. Adv Neonatal Care. 2008 Feb;8(1):21-30; quiz 31-2. doi: 10.1097/01.ANC.0000311013.71510.41. Adv Neonatal Care. 2008. PMID: 18300735 Review.
Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. ...This article provides an overview of the disorder and discusses the etiologic origins of the syndrome. A guide for a systematic physical assessment is presented to enhance the early r …
Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. ...This article provides an overview of the disorder …
Complications of mandibular distraction osteogenesis for congenital deformities: a systematic review of the literature and proposal of a new classification for complications.
Verlinden CR, van de Vijfeijken SE, Jansma EP, Becking AG, Swennen GR. Verlinden CR, et al. Int J Oral Maxillofac Surg. 2015 Jan;44(1):37-43. doi: 10.1016/j.ijom.2014.07.009. Epub 2014 Aug 20. Int J Oral Maxillofac Surg. 2015. PMID: 25148931 Review.
A systematic review of English and non-English language articles on the complications of mandibular distraction osteogenesis (MDO) for patients with congenital deformities was performed, in accordance with the PRISMA statement. Search terms expressing distraction …
A systematic review of English and non-English language articles on the complications of mandibular distraction osteogenesis (MDO) fo …
Fibrillin microfibrils in bone physiology.
Smaldone S, Ramirez F. Smaldone S, et al. Matrix Biol. 2016 May-Jul;52-54:191-197. doi: 10.1016/j.matbio.2015.09.004. Epub 2015 Sep 25. Matrix Biol. 2016. PMID: 26408953 Free PMC article. Review.
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of …
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) under …
Update on mandibular distraction osteogenesis.
Earley M, Butts SC. Earley M, et al. Curr Opin Otolaryngol Head Neck Surg. 2014 Aug;22(4):276-83. doi: 10.1097/MOO.0000000000000067. Curr Opin Otolaryngol Head Neck Surg. 2014. PMID: 24979370 Review.
PURPOSE OF REVIEW: Mandibular distraction osteogenesis has become one of the most powerful reconstructive tools for addressing congenital lower jaw deformities. This review will focus on clinical and basic science contributions to the literature in the last year, wh …
PURPOSE OF REVIEW: Mandibular distraction osteogenesis has become one of the most powerful reconstructive tools for addressing con …
54 results