Results 11 to 20 of about 28,866 (195)

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. [PDF]

J Med Genet, 2017
Background Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME).
Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S.   +6 more
europepmc   +7 more sources

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature

Case Reports in Dentistry, 2020
Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface ...
Farnoosh Mohammadi, Afrooz Javanmard, Hamid Mojtahedi   +2 more
doaj   +2 more sources

Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia ...
Chih-Ping Chen, Ming Chen, Yi-Ning Su, Chin-Yuan Hsu, Fuu-Jen Tsai, Schu-Rern Chern, Pei-Chen Wu, Chen-Chi Lee, Wayseen Wang   +8 more
doaj   +3 more sources

PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome

Journal of Dental Research, 2019
Premature fusion of the cranial suture and midface hypoplasia are common features of syndromic craniosynostosis caused by mutations in the FGFR2 gene. The only treatment for this condition involves a series of risky surgical procedures designed to correct defects in the craniofacial bones, which must be performed until brain growth
B, Kim, H, Shin, W, Kim, H, Kim, Y, Cho, H, Yoon, J, Baek, K, Woo, Y, Lee, H, Ryoo   +9 more
openaire   +3 more sources

Le Fort III osteotomy for severe dentofacial deformity correction associated with hypoplasia of the midface [PDF]

RGO - Revista Gaúcha de Odontologia, 2016
ABSTRACT The combination of orthodontic therapy and orthognathic surgery is a well-established treatment modality for the correction of dentofacial deformities. When these deformities are more severe, involving hypoplastic midface, surgical techniques not used routinely in the treatment of facial changes are required, such as the Le Fort III osteotomy ...
SEBASTIANI, Aline Monise, REBELATTO, Nelson Luis Barbosa, KLÜPPEL, Leandro Eduardo, COSTA, Delson João da, ANTONINI, Fernando, MORAES, Rafaela Scariot de   +5 more
openaire   +4 more sources

A1—Mandibular Prognathism and Maxillary Retrognathism/Maxillary and Midface Hypoplasia (Class III)

Sagittal mandibular prognathism (mandibular excess) as basic deviation may occur in combination with various maxillary deformities: + Sagittal maxillary deficiency (maxillary retrognathism/midface hypoplasia). Vertical maxillary excess Vertical maxillary deficiency In this chapter, we discuss the procedure for bimaxillary correction without the need ...
Kessler, Peter, Lie, Suen An Nynke, Timmer, Veronique C.M.L.   +2 more
openaire   +3 more sources

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

American Journal of Medical Genetics Part A, 2010
AbstractAlport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. We report on a family with two males with this disorder and a Xq22.3 deletion. Fluorescent in situ hybridization and genomic analyses mapped the deletion region to between exon 1 of COL4A5 and ...
RODRIGUEZ JD., BHAT SS., MELONI I., LADD S., LESLIE ND., DOYNE EO., RENIERI A., DUPONT B. R., STEVENSON R. E., SCHWARTZ C. E., SRIVASTAVA A. K.   +10 more
openaire   +5 more sources

Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross-Sectional Study. [PDF]

Clin Exp Dent Res
ABSTRACT Objectives To delineate the craniofacial morphometric characteristics of Thai children with syndromic (SC) and non‐syndromic craniosynostosis (NSC) and to assess dental maturation relative to Chronological Age (CA). Methods This comparative cross‐sectional study evaluated 19 patients (SC: n = 13; NSC: n = 6; mean age 9.32 ± 2.67 years ...
Ratanasereeprasert N, Wongbanthit Y, Intarak N, Suwanwitid P, Teekavanich C, Marya A, Hong G, Porntaveetus T.   +7 more
europepmc   +2 more sources

Use of repeat anterior maxillary distraction to correct residual midface hypoplasia in cleft patients. [PDF]

J Korean Assoc Oral Maxillofac Surg, 2017
The study was designed to evaluate the efficacy of performing a second, repeat anterior maxillary distraction (AMD) to treat residual cleft maxillary hypoplasia.Five patients between the ages of 12 to 15 years with a history of AMD and with residual cleft maxillary hypoplasia were included in the study.
Richardson S, Krishna S, Bansal A.
europepmc   +3 more sources

Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review. [PDF]

J Craniofac Surg, 2018
Abstract The surgical management of midface hypoplasia in the setting of Nager syndrome remains a significant challenge for craniofacial surgeons. This study describes a novel technique using distraction osteogenesis and modified osteotomies for the treatment of midface bony defects in an 11-year-old child with Nager syndrome.
Simpson AM, Mehta ST, Siddiqi F, Yamashiro D, Gociman B.   +4 more
europepmc   +4 more sources