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craniofacial malformation

Mahbobe Gholami, Seyed Adel Moallem, Mohammad Afshar, Sakineh Amoueian, Leila Etemad, Gholamreza Karimi
OBJECTIVE: Silybum marianum has been used for centuries in herbal medicine for treatment of liver diseases. Currently, there is no data available on the possible effects of silymarin on fetal development. This study aimed to investigate the teratogenic effect of silymarin on BALB/c mice fetuses. MATERIALS AND METHODS: A total of 40 pregnant mice were divided into 4 groups of 10 mice each. Three groups received silymarin at three different doses of 50, 100 and 200 mg/kg/day during gestational days (GDs)...
September 2016: Avicenna Journal of Phytomedicine
Anil Gungor
Pediatric OSAS and craniofacial malformations present challenges that require innovative approaches and comprehensive treatment strategies. Synchronous airway lesions, craniofacial malformations, obstructive anomalies of the tongue base, nasal vault and choanae are commonly addressed by subspecialists from various clinical and surgical academic traditions who practice variable levels of required communication. This is not a mere social requirement but an important requisite for intelligent and effective airway management...
September 28, 2016: American Journal of Otolaryngology
Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan, Yimin Sun
Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, potential linkage between these two disorders has been suggested as prevalence of DD among NSCL/P patients was much higher than that in general populations. Previous neuroimaging studies observed impaired short-term memory in patients with DD and NSCL/P, respectively...
October 13, 2016: Journal of Human Genetics
Aurora Ibarra-Arce, Tania Albavera-Giles, Beatriz Zavaleta-Villa, Gabriela Ortiz de Zárate-Alarcón, Laura Flores-Peña, María Del Carmen Sierra-Romero, Mirza Romero-Valdovinos, Angélica Olivo-Díaz
OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives)...
November 2016: International Journal of Pediatric Otorhinolaryngology
Sanjiv B Amin, Satish Saluja, Arvind Saili, Nirupama Laroia, Mark Orlando, Hongyue Wang, Asha Agarwal
AIM: Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342μmol/L, or that met exchange transfusion). METHOD: Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness...
October 8, 2016: Developmental Medicine and Child Neurology
Ricardo Fuentes, Juan Carlos De la Cuadra, Hector Lacassie, Alejandro González
: Neonates and small infants with craniofacial malformation may be very difficult or impossible to mask ventilate or intubate. We would like to report the fiberoptic intubation of a small infant with Treacher Collins Syndrome using the technique described by Ellis et al. CASE REPORT: An one month-old infant with Treacher Collins Syndrome was scheduled for mandibular surgery under general endotracheal anesthesia. Direct laryngoscopy for oral intubation failed to reveal the glottis...
September 27, 2016: Revista Brasileira de Anestesiologia
Vânia Henriques, Rafaela Teles, Ana Sousa, Roberto Estevão, Jorge Rodrigues, Alexandra Gomes, Francisco Silva, Ângelo Fernandes, Fausto Fernandes
Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window...
2016: Case Reports in Otolaryngology
Xiaoran Ma, Bradley McPherson, Lian Ma
OBJECTIVES: Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders...
2016: PeerJ
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
September 12, 2016: American Journal of Medical Genetics. Part A
Sojung Yi, Frank P Albino, Benjamin C Wood, Tina M Sauerhammer, Gary F Rogers, Albert K Oh
Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by branchial or pharyngeal arch malformations, ocular findings, and craniofacial anomalies. Activating mutations in the enhancer-binding protein 2 alpha, TFAP2A, gene is responsible for the autosomal-dominant inheritance of BOFS. While documented patients of BOFS report wide variability in phenotype expressivity, patients typically demonstrate cervical or infra-auricular anomalies, diverse ocular malformations including microphthalmia and coloboma, and highly characteristic pseudo-cleft or palate defects...
September 2016: Journal of Craniofacial Surgery
Carolin Schille, Michaela Bayerlová, Annalen Bleckmann, Alexandra Schambony
The receptor tyrosine kinase Ror2 is a major Wnt receptor that activates β-catenin-independent signaling and plays a conserved role in the regulation of convergent extension movements and planar cell polarity in vertebrates. Mutations in the ROR2 gene cause recessive Robinow syndrome in humans, a short-limbed dwarfism associated with craniofacial malformations. Here, we show that Ror2 is required for local upregulation of gdf6 at the neural plate border in Xenopus embryos. Ror2 morphant embryos fail to upregulate neural plate border genes and show defects in the induction of neural crest cell fate...
September 1, 2016: Development
Matthew A Deardorff, Nicholas J Porter, David W Christianson
Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutation in a gene encoding a core cohesin protein (SMC1A, SMC3, or RAD21) or a cohesin regulatory protein (NIPBL or HDAC8). Notably, the regulatory function of HDAC8 in cohesin biology has only recently been discovered...
August 31, 2016: Protein Science: a Publication of the Protein Society
Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante
INTRODUCTION: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. MATERIALS AND METHODS: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Oliver Ristow, Christian Freudlsperger, Moritz Berger, Heidi Bächli, Jürgen Hoffmann, Michael Engel
Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. However, to the best of our knowledge, the diagnosis of a combination of both Sturge-Weber syndrome and trigonocephaly has not as yet been reported. This brief clinical study thus presents a patient with the unusual findings of a Sturge-Weber syndrome and simultaneous trigonocephaly induced by premature metopic synostosis...
October 2016: Journal of Craniofacial Surgery
C Jaloux, T Malet, V Duquennoy-Martinot, J Bardot, D Casanova, B Bertrand, C Philandrianos, N Degardin
Palpebral malformations can be isolated or associated with a craniofacial disorder. Their assessment is based on clinical examination; additional investigations are mainly done to characterize craniofacial syndromes. In case of extrapalpebral lesions or complex craniofacial pathology, genetic testing must be performed. Some isolated malformations will only need a simple follow-up; others must have specific treatment, undertaken following a precise timing, taking into account child and anatomical structures' growth and the possible consequences of the malformation on the eye and child's sight (degree of urgency)...
October 2016: Annales de Chirurgie Plastique et Esthétique
Yang Cao, Elyse B Mitchell, Jerome L Gorski, Cassandra Hollinger, Nicole L Hoppman
Here, we report strong evidence for a role of the FNDC3B gene in craniofacial development. Chromosomal microarray identified deletions at 3q26.31 in two patients with dysmorphic facial features. Parental FISH studies demonstrated that they are de novo; therefore, these two 3q26.31 microdeletions likely contribute to the patients' dysmorphic features. Interestingly, the minimal region of overlap contains only the FNDC3B gene. Ffibronectin domain III-containing protein 3B (FNDC3B), also known as factor for adipocyte differentiation-104 (FAD104), was first identified as a positive regulator of adipogenesis in a mouse model...
August 19, 2016: American Journal of Medical Genetics. Part A
P Guerreschi, A Wolber, Y Bennis, M Vinchon, V Martinot-Duquennoy
Distraction osteogenesis, initially developed by Ilizarov for limb, is the tissular extension caused by the progressive space of the osseous pieces following an osteotomy. Distraction is osteogenesic and histogenic. Twenty-five years ago, at the instigation of McCarthy, this technique was used to handle the craniofacial malformations in the various floors of the face : mandibular, mediofacial and cranial. The most wide-spread protocols respect a latency period from 0 to 7 days, a rhythm of distraction from 1 to 2mm a day in 2 at 4 times and a period of consolidation from 4 to 8 weeks...
October 2016: Annales de Chirurgie Plastique et Esthétique
Shaojuan Hao, Lei Jin, Huijun Wang, Chenlong Li, Fengyun Zheng, Duan Ma, Tianyu Zhang
Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1...
September 2016: Journal of Craniofacial Surgery
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