Craniofacial Abnormalities

09/01/2015 - "These results confirm an essential role for TNAP in craniofacial skeletal development and demonstrate the efficacy of early postnatal mineral-targeted enzyme replacement for preventing craniofacial abnormalities including craniosynostosis in murine infantile HPP. "

10/01/2000 - "Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study."
03/01/1992 - "Retinoic acid causes a range of embryonic defects, including craniofacial abnormalities, in both birds and mammals and is believed to have a number of roles in normal development. "
08/01/2014 - "Retinoic acid induced-1 (RAI1) is an important yet understudied histone code reader that when mutated in humans results in Smith-Magenis syndrome (SMS), a neurobehavioral disorder accompanied by signature craniofacial abnormalities. "
10/25/2006 - "Retinoic acid (RA) is a teratogen that induces a variety of craniofacial abnormalities, including branchial arch deformities and cleft palate. "
07/01/2011 - "The purpose of the present study was to identify the potential effect of prenatal vitamin B12 administration on retinoic acid (RA)-induced early craniofacial abnormalities in mice and to investigate the possible mechanisms by which vitamin B12 reduces malformations. "

12/30/2006 - "Ethanol (EtOH) is a well-known developmental toxicant that produces a range of abnormal phenotypes in mammalian systems including craniofacial abnormalities, cognitive deficits and growth retardation. "
11/01/2005 - "The embryos exposed to high ethanol were smaller and less advanced in development than were the embryos in the control group and showed craniofacial abnormalities, such as a fusion defect of the neural tube. "
03/01/2002 - "Ethanol exposure during fetal development can result in behavioral and neurological deficits, including reduced cognitive functions, retarded growth, and craniofacial abnormalities. "
03/20/1992 - "Previous studies have demonstrated that acute ethanol exposure on gestational day 7 in the developing C57BL/6J mouse resulted in craniofacial abnormalities similar to that of children with fetal alcohol syndrome. "
02/01/2008 - "Ethanol is a known teratogen and has been implicated in the etiology of human fetal alcohol syndrome (FAS), which is characterized by distinct craniofacial abnormalities such as microcephaly, agnathia, and ocular aberrations. "

01/01/2010 - "The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child. "
01/01/1989 - "Neonatal rats exposed prenatally to phenytoin (PHT) have been reported to have craniofacial abnormalities and growth retardation [Lorente et al.: Teratology 24:169-180, 1981]. "
01/01/1983 - "In 1968 Meadow reported certain malformations that suggest a congenital syndrome involving craniofacial abnormalities and that add to the high level of suspicion pointing to phenytoin. "

07/29/2003 - "Clinical studies show a statistical decrease in the number of neural tube defects, craniofacial abnormalities, cardiovascular defects and limb abnormalities detected in offspring of female patients given supplementary folate during pregnancy. "
06/15/2005 - "Abnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. "

07/01/2011 - "These results suggest that vitamin B12 may prevent RA-induced craniofacial abnormalities via prevention of an RA-induced decrease of ET-1 and dHAND protein levels in the branchial region during the organogenic period. "
07/01/2011 - "The purpose of the present study was to identify the potential effect of prenatal vitamin B12 administration on retinoic acid (RA)-induced early craniofacial abnormalities in mice and to investigate the possible mechanisms by which vitamin B12 reduces malformations. "
07/01/2011 - "Prevention of retinoic acid-induced early craniofacial abnormalities by vitamin B12 in mice."

08/01/1998 - "Mice harboring a null mutation of the endothelin-1 gene (Edn1), which is expressed in the epithelial layer of the branchial arches and encodes for the endothelin-1 (ET-1) signaling peptide, have a phenotype similar to CATCH-22 syndrome with aortic arch defects and craniofacial abnormalities. "
04/21/1994 - "Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1."
02/01/2010 - "Traits of obstructive sleep apnea syndrome (OSAS) such as impaired ventilatory control, craniofacial abnormalities, and concomitant cardiovascular diseases are associated with modified endothelin-1 gene (EDN-1) or endothelin-receptor-subtype-a (EDNRA) gene. "
09/01/2006 - "Prevention of retinoic acid-induced early craniofacial abnormalities by folinic acid and expression of endothelin-1/dHAND in the branchial arches in mouse."
09/01/2006 - "Prevention of retinoic acid-induced craniofacial abnormalities by folinic acid, and endothelin-1 (ET-1)/dHAND protein and mRNA expression were investigated in mouse embryos using the whole embryo culture, streptavidin-biotin peroxidase complex method, and whole-mount in situ hybridization. "

04/01/2014 - "Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. "
12/01/1998 - "Roberts syndrome (RS) is a rare autosomal recessive disorder characterized primarily by symmetric reduction anomalies of all limbs, growth retardation and craniofacial abnormalities. "
07/15/2008 - "Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. "
01/01/1979 - "Roberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. "

09/15/2012 - "Craniofacial abnormalities and altered wnt and mmp mRNA expression in zebrafish embryos exposed to gasoline oxygenates ETBE and TAME."
11/01/2007 - "Acute exposure to dexamethasone and hydrocortisone resulted in abnormal zebra fish development including craniofacial abnormalities, altered somitogenesis, blood pooling and pericardial and yolk sac edema as well as increased MMP-13 mRNA and activity at 72 hpf. "
09/01/2006 - "Prevention of retinoic acid-induced craniofacial abnormalities by folinic acid, and endothelin-1 (ET-1)/dHAND protein and mRNA expression were investigated in mouse embryos using the whole embryo culture, streptavidin-biotin peroxidase complex method, and whole-mount in situ hybridization. "

01/01/2005 - "Defective migration can also cause midline craniofacial abnormalities, renal agenesis, and cardiovascular defects. "
01/01/2014 - "These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. "
05/01/2001 - "We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect."

02/19/2008 - "Mice heterozygous for the Yoda mutation exhibit craniofacial abnormalities: shortened snouts, wider skulls, and deformed nasal bones, underlined by altered morphology of frontonasal sutures and failure of interfrontal suture to close. "
04/01/2012 - "Most craniofacial abnormalities are non-syndromic craniosynostoses due to premature fusion of one or more craniofacial sutures. "
01/01/2007 - "Craniosynostosis, the premature fusion of calvarial sutures, is a common craniofacial abnormality. "
11/01/2004 - "Most craniofacial abnormalities are craniosynostoses due to premature fusion of one or more craniofacial sutures. "
08/01/2004 - "Scaphocephaly is a common craniofacial abnormality that results from craniosynostosis of the sagittal suture. "

05/01/2014 - "Considering the craniofacial abnormality in these patients, airway management may be difficult for anesthesiologists. "
09/01/2009 - "Airway management for patients with craniofacial abnormalities poses many challenges. "
09/01/2009 - "Airway management of patients with craniofacial abnormalities: 10-year experience at a teaching hospital in Taiwan."
07/01/2009 - "Airway management for pediatric patients with difficult airways due to craniofacial abnormalities."
05/01/2008 - "The anaesthetic management of children with craniofacial abnormalities often presents unique challenges because soft tissue and bony abnormalities can affect the airway and influence airway management. "

01/01/2013 - "Risk factors for operative middle ear disease among these children include age at time of the tracheostomy, craniofacial abnormalities, term birth, and home living situation."
02/01/2006 - "For safe, long-term use of a tracheostomy to maintain the airway, children with craniofacial abnormalities should be carefully supervised by their families to prevent accidental decannulation."
07/01/1993 - "The recognition of severe sleep apnoea in patients with craniofacial abnormalities and the role of initial tracheostomy are discussed."
01/01/2005 - "The treatment of OSAS may be surgical (adenotonsillectomy, craniofacial abnormalities correction, tracheostomy) or clinical (sleep hygiene, continuous positive airway pressure--CPAP)."

03/01/2014 - "Seventy-four articles met the inclusion criteria, resulting in 711 patients with craniofacial abnormalities who underwent mandibular distraction osteogenesis. "
05/01/2013 - "Distraction osteogenesis has revolutionised the management of craniofacial abnormalities. "
05/01/2000 - "[Distraction osteogenesis of the mandible in craniofacial abnormalities]."

07/01/1983 - "Tracheotomy prior to reconstructive surgery for major craniofacial abnormalities is becoming more frequent. "
07/01/2000 - "Indications for tracheotomy were placed into the following six groups: craniofacial abnormalities (13%), upper airway obstruction (19%), prolonged intubation (26%), neurological impairment (27%), trauma (7%), and vocal fold paralysis (7%). "
01/01/2006 - "The most common indications for tracheotomy tube placement were subglottic stenosis (32%), chronic lung disease (28%), craniofacial abnormality (14%), chronic ventilator dependency (11%), and a neurologic disorder (8%). "