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International Journal of Molecular... Jan 2022Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result... (Review)
Review
Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic-NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype-phenotype correlations. We then present the animal models used to study these defects.
Topics: Animals; Cleft Lip; Cleft Palate; Disease Models, Animal; Gene Regulatory Networks; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Mutation; Prognathism
PubMed: 35055138
DOI: 10.3390/ijms23020953 -
Journal of Oral Biology and... 2022Clefts involving the mandible and lower lip are very rare, with less than 80 cases having been reported worldwide. The objective of this case report is to highlight this...
Clefts involving the mandible and lower lip are very rare, with less than 80 cases having been reported worldwide. The objective of this case report is to highlight this unusual type of facial cleft, and to present the principle features and management typically associated with it. We carefully describe our surgical planning and management of the patient alongside a compilation and comparison of different surgical techniques described in the literature thus far. In this report, we discuss a patient with a cleft of the lower lip, true cleft mandible with independent movements of his mandibular segments, ankyloglossia, and a fistula extending from the mandible to the suprasternal notch complicated with congenital heart abnormalities. We explore the different approaches of when to close the hard and soft tissues, however, there is still no clear surgical protocol for treating cleft mandibles but with more cases and their management and outcomes being reported, this is something which will be useful to develop.
PubMed: 34824969
DOI: 10.1016/j.jobcr.2021.11.002 -
Scientific Reports Nov 2022Growth alterations have been described in patients operated on for oral clefts. The purpose of this work was to analyze the craniofacial and palate morphology and...
Growth alterations have been described in patients operated on for oral clefts. The purpose of this work was to analyze the craniofacial and palate morphology and dimensions of young adults operated on for oral clefts in early childhood in Spain. Eighty-three patients from eight different hospitals were divided into four groups based on their type of cleft: cleft lip (CL, n = 6), unilateral cleft lip and palate (UCLP, n = 37), bilateral cleft lip and palate (BCLP, n = 16), and cleft palate only (CPO, n = 24). A control group was formed of 71 individuals. Three-dimensional (3D) digital models were obtained from all groups with an intraoral scanner, together with cephalometries and frontal, lateral, and submental facial photographs. Measurements were obtained and analyzed statistically. Our results showed craniofacial alterations in the BCLP, UCLP, and CPO groups with an influence on the palate, maxilla, and mandible and a direct impact on facial appearance. This effect was more severe in the BCLP group. Measurements in the CL group were similar to those in the control group. Cleft characteristics and cleft type seem to be the main determining factors of long-term craniofacial growth alterations in these patients. Prospective research is needed to clearly delineate the effects of different treatments on the craniofacial appearance of adult cleft patients.
Topics: Young Adult; Humans; Child, Preschool; Cleft Lip; Cleft Palate; Spain; Prospective Studies; Cephalometry; Maxilla
PubMed: 36336749
DOI: 10.1038/s41598-022-23584-0 -
The Angle Orthodontist May 2012The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal...
The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.
Topics: Cephalometry; Child; Ear; Ear Diseases; Facial Asymmetry; Female; Humans; Malocclusion, Angle Class III; Mandible; Mandibular Condyle; Orthodontics, Corrective; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Pedigree; Retrognathia
PubMed: 22050072
DOI: 10.2319/052911-356.1 -
Seminars in Plastic Surgery May 2012Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a...
Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a hypoplastic mandible and difficulty breathing. The smaller mandible displaces the tongue posteriorly, resulting in obstruction of the airway. Typically, a wide U-shaped cleft palate is also associated with this phenomenon. PRS is not a syndrome in itself, but rather a sequence of disorders, with one abnormality resulting in the next. However, it is related to several other craniofacial anomalies and may appear in conjunction with a syndromic diagnosis, such as velocardiofacial and Stickler syndromes. Infants with PRS should be evaluated by a multidisciplinary team to assess the anatomic findings, delineate the source of airway obstruction, and address airway and feeding issues. Positioning will resolve the airway obstruction in ~70% of cases. In the correct position, most children will also be able to feed normally. If the infant continues to show evidence of desaturation, then placement of a nasopharyngeal tube is indicated. Early feeding via a nasogastric tube may also reduce the amount of energy needed and allow for early weight gain. A proportion of PRS infants do not respond to conservative measures and will require further intervention. Prior to considering any surgical procedure, the clinician should first rule out any sources of obstruction below the base of the tongue that would necessitate a tracheostomy. The two most common procedures for treatment, tongue-lip adhesion and distraction osteogenesis of the mandible, are discussed.
PubMed: 23633934
DOI: 10.1055/s-0032-1320065 -
BMC Oral Health Mar 2021Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this...
BACKGROUND
Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we performed orthodontic analyses, including skeletal and occlusal evaluations, to examine whether the craniofacial skeletal morphology leads to the craniofacial anomalies in LS.
CASE PRESENTATION
A 5 year old Japanese girl who was clinically diagnosed with LS was referred to the orthodontic clinic in the Fukuoka Dental College Medical and Dental Hospital because of a malocclusion. Clinical findings at birth were knee-joint dislocations, equinovarus foot deformities, and cleft soft palate. The patient showed craniofacial anomalies with hypertelorism, prominent forehead, depressed nasal bridge, and flattened midface. To evaluate the craniofacial skeletal morphology, cephalometric analysis was performed. In the frontal cephalometric analysis, the larger widths between bilateral points of the orbitale were related to hypertelorism. The lateral cephalometric analysis revealed the midface hypoplasia and the retrognathic mandible. These findings were responsible for the flattened appearance of the patient's face, even if the anteroposterior position of the nasion was normal. Her forehead looked prominent in relation to the face probably because of the retrognathic maxilla and mandible. Both the study model and the frontal cephalometric analysis indicated constriction of the upper and lower dental arches. The posterior crossbite facilitated by the premature contacts had developed in association with the constriction of the upper dental arch.
CONCLUSIONS
This patient had some craniofacial anomalies with characteristic appearances in LS. It was evident that the underlying skeletal morphology led to the craniofacial dysmorphism.
Topics: Cephalometry; Child, Preschool; Cleft Palate; Female; Humans; Mandible; Maxilla; Osteochondrodysplasias
PubMed: 33691679
DOI: 10.1186/s12903-021-01454-x -
Case Reports in Dentistry 2014Median cleft of lower lip and mandible is a rare congenital anomaly described as cleft number 30 of Tessier's classification. In minor forms only lower lip cleft is...
Median cleft of lower lip and mandible is a rare congenital anomaly described as cleft number 30 of Tessier's classification. In minor forms only lower lip cleft is seen. We report the case of a patient with median cleft of lower lip, severe ankyloglossia, cleft of mandibular symphysis, and residual cleft involving on right soft palate and associated with other facial clefts. These deformities were corrected in multiple stage procedure, consisting of release of the tongue from floor of the mouth and lower alveolus and fixation of the mandibular cleft done with right iliac bone graft using stainless steel miniplate.
PubMed: 24711928
DOI: 10.1155/2014/682163