Hypertelorism

01/01/2023 - "In this study, we found that enhanced bone morphogenetic protein (BMP) signaling in cranial neural crest cells (NCCs) (P0-Cre;caBmpr1a mice) causes premature fusion of intersphenoid synchondrosis (ISS) resulting in leading to short snouts and hypertelorism. "

02/01/2015 - "The prominent findings like flat nasal bridge (94.3%), hypertelorism (92.9%), high arched palate (78.6%) and fissured tongue (78.6%) in our study, suggest that they could be used as a reliable clinical markers to diagnose Down syndrome condition."

01/01/2018 - "Hypertelorism, scleral and retinal vascular abnormalities were not features of LDS."
01/01/2022 - "Depending on the study, prevalence of these features in patients with NBCCS ranges from 26-80% for hypertelorism and 7-36% for myelinated retinal nerve fiber layer. "
03/01/2006 - "Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. "
12/01/2015 - "Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. "
01/01/2001 - "The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. "

08/01/2011 - "We found that the X chromosome bearing the duplication produces ∼1.6-fold more EFNB1 transcript than the normal X chromosome and propose that, in the context of X-inactivation, this difference in expression level of EFNB1 results in abnormal cell sorting leading to hypertelorism. "
08/01/2011 - "Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice."
08/01/2011 - "Hence, we propose that X-linked cases resembling Teebi hypertelorism may have a similar mechanism to CFNS, and that cellular mosaicism for different levels of ephrin-B1 (as well as simple presence/absence) leads to craniofacial abnormalities."
05/01/2022 - "EFNB1 mutation causes craniofrontonasal dysplasia (CFND), a congenital syndrome associated with craniomaxillofacial anomalies characterised by coronal craniosynostosis, orbital hypertelorism, and midface dysplasia. "
04/15/2013 - "Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature. "

01/01/2021 - "The surgical management of hypertelorism is challenging for plastic surgeons, and limited long-term outcome data are available. "
10/01/2006 - "To establish a rabbit model of orbital hypertelorism for plastic and reconstructive surgery and evaluate the surgical effects. "
11/01/1999 - "The wall separating the face and the cranium was broken by Paul Tessier and Gérard Guiot in the 1960s, making it possible to perform a combined operation around the orbits and forehead, and opening up close cooperation between plastic surgeons and neurosurgeons, especially for treatment of the major malformations such as hypertelorism of major facial retrusions. "
04/01/1981 - "[Additional technics for the plastic correction of orbital hypertelorism]."

04/01/2012 - "Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of hypertelorism, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms. "
08/24/2006 - "The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). "
09/01/2009 - "Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. "

01/01/1994 - "Those minor anomalies (hypertelorism, distal digital hypoplasies), which may possible be induced by antiepileptic drugs harmonize or disappear during further development. "
06/01/2006 - "At the time of presentation he had been taking antiepileptic drugs for 2 wk and displayed facial dysmorphism (short neck, micrognathia, a small mouth, hypoplastic nasal alae, eye hypertelorism, and low-set simple ears). "
01/01/1984 - "It has been widely reported that some children exposed to anticonvulsants in utero have a characteristic pattern of craniofacial anomalies including a broad, low nasal bridge with a short upturned nose, wide mouth, low set ears, epicanthal folds, and ocular hypertelorism, while others show no evidence of craniofacial abnormalities. "

12/01/2016 - "Patients harboring a TGFBR1 mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection and 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, and 27% wide scars) when compared with patients harboring a TGFBR2 mutation. "
08/24/2006 - "The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). "
09/01/2009 - "Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. "

12/01/2016 - "Patients harboring a TGFBR1 mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection and 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, and 27% wide scars) when compared with patients harboring a TGFBR2 mutation. "
08/24/2006 - "The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). "
09/01/2009 - "Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. "

04/15/2010 - "These data also raise the possibility that genes encoding ciliary proteins are candidates for human conditions of hypertelorism and FNDs."
08/01/2009 - "The second breakpoint associated with holoprosencephaly, hypertelorism and ectrodactyly syndrome was mapped 2.5 Mb proximal at 118.4 Mb and the candidate genes identified from this region were the insulin-induced protein 2 and the homeobox protein engrailed-1. "

03/01/2015 - "The inverted U-shaped osteotomy technique may be an effective and safe technique for the stability of the corrected orbital framework and the prevention of recurrence in severe cases of orbital hypertelorism. "
04/01/1995 - "As a result of the FB osteotomy, anterior bony projection was achieved, and the hypertelorism was improved, but fell short of age-matched normal values. "
01/01/2021 - "All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. "
03/01/2023 - "Four patients with orbital hypertelorism underwent intracranial and extracranial combined box osteotomy correction. "
01/01/2023 - "The authors present a 3-dimensional animated video, Supplemental Digital Content 1, http://links.lww.com/SCS/E561 showing the craniofacial osteotomies and focusing on the critical points to correct hypertelorism."

03/01/2015 - "The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. "
08/01/2013 - "The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes. "
05/01/2013 - "Both had dysmorphic features (prominence of the metopic suture, synophrys, hypertelorism, down-slanting palpebral fissures, tented mouth), and a distinct brain MRI, showing a focal significant increase of the right peri-frontal subarachnoid space, with shallow sulci and a mild anomaly of the gyral pattern. "
12/01/1997 - "Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. "
01/01/2021 - "This study aimed to explore the clinical effects of inverted-U osteotomy in correcting orbital hypertelorism and to further explore its indications and advantages; 4 patients with orbital hypertelorism and premature closure of unilateral coronal suture underwent inverted-U osteotomy. "

01/01/2022 - "The sagittal deficiency (fronto-facial retrusion) was corrected by FFMA and the transversal abnormality (i.e., hypertelorism and maxillary deficiency) by the FB, then followed by an internal distraction osteogenesis. "
03/01/2018 - "All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar." Studies were excluded if they were not randomized, did not focus primarily on topics related to cleft or craniofacial surgery, included repeat publications of data, or were unavailable in English. "

03/01/2023 - "The purpose of this study was to compare the safety and effect of piezosurgery with conventional osteotomy in a box-shifting procedure for orbital hypertelorism (ORH) correction surgery. "
03/01/2023 - "Comparison of Piezosurgery and Conventional Osteotomy for Orbital Hypertelorism Surgical Correction."

05/01/1996 - "This study evaluated the presence of extradural dead space following a monobloc or facial bipartition osteotomy and examined its natural history and relationship to postoperative infection and the presence of a ventriculoperitoneal shunt at the time of osteotomy in a consecutive series of patients with craniofacial dysostosis, frontonasal dysplasia, midline cranio-orbital clefts, and orbital hypertelorism. "