Craniofacial Anomalies
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
... severe spasticity, hypotonia, nystagmus and ataxia [12]. Most of the CNVs in this interval include PLP1 and neighboring genes, suggesting the occurrence of microdele- tion and microduplication syndromes at Xq22.2 with ...
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Psychological impact of visible differences in patients with congenital craniofacial anomalies
... There are some methodological limitations inherent in this study which should be considered when generalizing findings. Firstly, the age of participants in both the ex- perimental and control groups was low compared to a ...
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
... and craniofacial anomalies by the positional cloning of two patients with balanced translocations in 2012 [4], no point mutations affecting this gene had been reported to confirm its deleterious impact ...
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De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
... In this study we provide the second report and fifth patient with pathogenic mutations in ASXL3 . Our case provides additional evidence that, indeed, truncating frameshift mutations in the ASXL3 gene are the cause of a ...
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Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
... associated anomalies [1, 5, ...and craniofacial anomalies in patients with ARS is ...dentofacial anomalies were evident in 27% of the patients ...
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Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia
... In addition to diaphragmatic hernia, craniofacial anomalies, and distal digital hypoplasia, which are present in almost all reported cases of Fryns syn-. drome, a number of internal malf[r] ...
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Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies
... Septopreoptic HPE is a mild subtype of a midline develop- mental malformation characterized by restricted areas of mid- line fusion involving the septal and preoptic regions. It is commonly included in the lobar spectrum ...
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Sleep Outcomes in Children With Hemifacial Microsomia and Controls: A Follow-up Study
... of sleep in this group; therefore, we undertook a study to assess symp- toms of SDB and sleep/wake pat- terns in children with HFM. Ours is the largest known study of sleep out- comes in this population and one of few to ...
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PubMedCentral-PMC4990026.pdf
... other craniofacial anomalies ...related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be ...
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Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature
... Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and ...
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New insights into craniofacial morphogenesis
... studied craniofacial abnormalities is holoprosencephaly (HPE), a syndrome that is associated with perturbations in a handful of Shh-related genes (Belloni et ...this craniofacial malformation? One appealing ...
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BMP signalling in craniofacial development
... in craniofacial area are mostly derived from the CNCCs and formed through intramembranous ossification, in which process mesenchymal cells directly condense and differentiate into osteoblasts without any cartilage ...
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Modelling of Orthogonal Craniofacial Profiles
... We have presented a fully-automatic, general and powerful head profile modelling pipeline that can extract 2D profiles from three orthogonal planes and build both separate and global (combined) morphable models of these ...
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Craniofacial Venous Plexuses: Angiographic Study
... This study of 54 consecutive normal cerebral angiograms demonstrates that visualization of the pterygoid plexus as well as the anterior facial , lingual , submental , and ophthalmic vein[r] ...
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Molecular genetics of complex craniofacial disorders
... associated craniofacial abnormalities including epibulbar dermoids, although these cases tend to be given the diagnosis o f Goldenhar syndrome (Gorlin et ...tracheoesophageal anomalies (Sutphen et ...
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Anomalies of the Corpus Callosum: Correlation with Further Anomalies of the Brain
... On the basis of the known temporal sequence of brain and callosal embryogenesis, we deduced the following regarding the pathogenesis of developmental anomalies: 1 callosal dysgenesis occ[r] ...
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The study of anomalies in the pzt material
... measurements have revealed the presence to two anomalies in the real part of the dielectric constant of PZT materials near the MPB. The occurrence of the anomaly corresponding to the lowest temperature was imputed ...
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Evaluation of incidence of cryptorchidism with special reference to anatomical and clinical aspects
... Keywords: Congenital anomalies, Cryptorchidism, Ectopic testis, genital anomalies, Testicular anomalies, Undescended testis.. 1 Department of Anatomy, 2 Department of Pedi[r] ...
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Neurophysiological assessment of craniofacial pain
... For these reasons, neurophysiological testing of the trigeminal territory relies mainly on trigeminal reflexes (blink reflex, masseter inhibitory reflex and jaw jerk) and on trigeminal l[r] ...
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The Developing Field of Craniofacial Surgery
... completely correct certain occlu.sal abnormalities of the jaws. The effect on vision, like that on psy- chobogic function remains uncertain. In children with hypertelorism so severe that[r] ...
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