The Challenge of Craniofacial Malformation Medicine in Perspective

2021 ◽  
pp. 3-15
Author(s):  
Ulrich Meyer
Keyword(s):  
Craniofacial Malformation

scholarly journals Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1073
Author(s):  
Federica Tiberio ◽  
Ornella Parolini ◽  
Wanda Lattanzi
Keyword(s):  
Primary Cilium ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
Craniofacial Development ◽  
Cranial Sutures ◽  
Craniofacial Malformation ◽  
Computational Annotation ◽  
Neural Crest Origin ◽  
Disease Associated Genes ◽  
Molecular Signals

Craniosynostosis (CS) is the second most prevalent inborn craniofacial malformation; it results from the premature fusion of cranial sutures and leads to dimorphisms of variable severity. CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part of a syndromic phenotype with mendelian inheritance. The genetic basis of CS is also extremely heterogeneous, with nearly a hundred genes associated so far, mostly mutated in syndromic forms. Several genes can be categorised within partially overlapping pathways, including those causing defects of the primary cilium. The primary cilium is a cellular antenna serving as a signalling hub implicated in mechanotransduction, housing key molecular signals expressed on the ciliary membrane and in the cilioplasm. This mechanical property mediated by the primary cilium may also represent a cue to understand the pathophysiology of non-syndromic CS. In this review, we aimed to highlight the implication of the primary cilium components and active signalling in CS pathophysiology, dissecting their biological functions in craniofacial development and in suture biomechanics. Through an in-depth revision of the literature and computational annotation of disease-associated genes we categorised 18 ciliary genes involved in CS aetiology. Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural crest origin of the frontal bone.

scholarly journals Hypodontia of mandibular incisors: considerations on the orthodontic treatment

2018 ◽  
Vol 23 (4) ◽  
pp. 79-87
Author(s):  
Renato Barcellos Rédua ◽  
Paulo César Barbosa Rédua
Keyword(s):  
Case Report ◽  
Treatment Option ◽  
Orthodontic Treatment ◽  
Composite Resin ◽  
Therapeutic Approaches ◽  
Missing Teeth ◽  
Craniofacial Malformation ◽  
Space Closure ◽  
Composite Resin Restorations

ABSTRACT Hypodontia is the most prevalent craniofacial malformation in mankind. It may present a wide variety of manifestations and, depending on the number and location of missing teeth, it may affect the esthetics, mastication, speech and occlusal balance. This paper discusses the therapeutic approaches to solve this condition, describing a case report with hypodontia of one mandibular lateral incisor, which treatment option included space closure at the region of hypodontia associated with composite resin restorations in the mandibular central incisors. The three-year follow-up after treatment revealed occlusal stability, adequate intercuspation in Class I relationship and excellent micro and macroesthetics.

A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability

2019 ◽  
Vol 179 (6) ◽  
pp. 936-939 ◽  
Author(s):  
Ling Zhang ◽  
Ximing Xu ◽  
Kaiqiang Sun ◽  
Jingchuan Sun ◽  
Yuan Wang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Spina Bifida ◽  
De Novo ◽  
De Novo Mutation ◽  
Craniofacial Malformation

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome

2011 ◽  
Vol 8 (5) ◽  
pp. 460-463 ◽  
Author(s):  
Anthony C. Wang ◽  
Joseph J. Gemmete ◽  
Catherine E. Keegan ◽  
Cordelie E. Witt ◽  
Karin M. Muraszko ◽  
...  
Keyword(s):  
Intracranial Aneurysms ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Inheritance Pattern ◽  
Craniofacial Malformation ◽  
Ct Angiogram ◽  
Preoperative Ct ◽  
History Of ◽  
Spontaneous Intracranial Hemorrhage

Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.

Labio-palatine Cleft, Morphological Substrate

2018 ◽  
Vol 69 (4) ◽  
pp. 1002-1005
Author(s):  
Cristian Romanec ◽  
Mariana Pacurar ◽  
Mioara Decusara ◽  
Monica Mihaela Scutariu ◽  
Delia Hinganu ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Congenital Abnormalities ◽  
Causative Factor ◽  
Common Type ◽  
Study Group ◽  
Disturbing Factor ◽  
Facial Region ◽  
Alveolar Cleft ◽  
Craniofacial Malformation ◽  
Functional Defects

Labio-palatin clefts are the most common type of craniofacial malformation encountered in practice and among the most common congenital abnormalities; it represent morphological and functional defects in newborns caused by genetically changes or environmental factors; those of the cervico-facial region have an increased incidence due to local embryological complexity and multifactorial etiology. The anomaly, with its variants, results from an inherent defect between the internal and external nasal buds, both from the frontal and upper maxillary bud. Labio-palatine clefts are characterized by a tissue deficiency as well as an abnormal disposition of the present tissues. It is believed that the labial clefts are consecutive to the lack of apoptosis of the ectoderm which envelops the internal maxillary and nasal buds, thus constituting a barrier to the fusion process of buds. Depending on the location and the extentension of the cleft, the labial cleft occurs, or the more frequent, the labial-alveolar cleft. The study group consisted of 22 patients with labio-palatine clefts, of which 16 boys (72.72%) and 6 girls (27.27%), who presented in the clinic for treatment. When the causative factor acts earlier, the clfet develops posteriorly, since mesodermization begins from the posterior to the anterior. The more disturbing factor acts, the greater the cleft. The increase in the incidence of labial-palatine cleft is believed to be mainly due to the increase in the number of women of older gestational age in women; women over 35 years of age have a double risk of having children with labio-palatine clefts, the risk being three times higher for mothers over the 39 years.

Early Partial Monolateral Zygomatic Arch Defect Leads to Unilateral Craniofacial Malformation

2011 ◽  
Vol 22 (5) ◽  
pp. 1883-1887 ◽  
Author(s):  
Jing Ma ◽  
Feng Niu ◽  
Lai Gui ◽  
Changsheng Lv ◽  
Jie Luan ◽  
...  
Keyword(s):  
Zygomatic Arch ◽  
Craniofacial Malformation

Genetic modifiers of otocephalic phenotypes inOtx2heterozygous mutant mice

Development ◽  
2002 ◽  
Vol 129 (18) ◽  
pp. 4347-4357 ◽  
Author(s):  
Takuichiro Hide ◽  
Jun Hatakeyama ◽  
Chiharu Kimura-Yoshida ◽  
E Tian ◽  
Naoki Takeda ◽  
...  
Keyword(s):  
Genetic Effect ◽  
Mutant Mice ◽  
Chromosome 2 ◽  
Genetic Modifiers ◽  
Lod Score ◽  
Craniofacial Malformations ◽  
Knock Out ◽  
Craniofacial Malformation ◽  
Replication Experiment ◽  
Significant Locus

Mice heterozygous for the Otx2 mutation display a craniofacial malformation, known as otocephaly or agnathia-holoprosencephaly complex. The severity of the phenotype is dependent on the genetic background of a C57BL/6 (B6) strain; most of the offspring of Otx2 knock-out chimeras, which are equivalent to the F1 of CBA and B6 strains, backcrossed with B6 females display reduction or loss of mandible, whereas those backcrossed with CBA females do not show noticeable phenotype at birth. The availability of phenotypically disparate strains renders identification of Otx2 modifier loci possible. In this study, a backcross of chimera with B6 was generated and genome-wide scans were conducted with polymorphic markers for non-mendelian distribution of alleles in Otx2 heterozygous mutant mice displaying abnormalities in the lower jaw. We identified one significant locus, Otmf18, between D18Mit68 and D18Mit120 on chromosomes 18, linked to the mandibular phenotype (LOD score 3.33). A similar replication experiment using a second backcross (N3) mouse demonstrated the presence of another significant locus, Otmf2 between D2Mit164 and D2Mit282 on chromosome 2, linked to the mandibular phenotype (LOD score 3.93). These two modifiers account for the distribution of the craniofacial malformations by the genetic effect between B6 and CBA strains. Moreover, Otmf2 contain a candidate gene for several diseases in mice and humans. These genetic studies involving an otocephalic mouse model appear to provide new insights into mechanistic pathways of craniofacial development. Furthermore, these experiments offer a powerful approach with respect to identification and characterization of candidate genes that may contribute to human agnathia-holoprosencephaly complex diseases.

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