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Results for “Craniofacial Abnormalities”

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At least 19 recordsLinked to original sources
PubMed2006

A pharyngeal and ectopic hypophysis in a neonate with craniofacial abnormalities: a case report and review of development and structure.

OBJECTIVE: A large excrescence was found bulging from the mucoperiosteum of the nasopharynx in a neonate displaying abnormal craniofacial features. The aim of this study was to determine the nature of this tissue mass. DESIGN: Histological examination of this mass of tissue and the surrounding nasopharyngeal mucosal tissue, as well as tissue located in the sella turcica of the sphenoid bone, were carried out. In addition, tissue in a canal connecting the large mass to the sella turcica was removed for analysis. RESULTS: Nervous elements and adenohypophyseal tissue were histologically identified in the large excrescence, but were separate from adenohypophyseal tissue of the pharyngeal hypophysis. Both structures were located in the mucoperiosteum of the nasopharynx. CONCLUSIONS: The large tissue mass found in the nasopharynx is histologically identical to a sellar hypophyseal gland, but differed from the adjacent pharyngeal hypophysis in histological composition. The mass, although sellar in nature, however, was placed ectopically in the nasopharynx and is hence termed pharyngosellar to indicate its abnormal position, as well as its origin.

Cadaver↗
PubMed2005

Craniofacial abnormalities in twins at tygerberg hospital, craniofacial unit.

UNLABELLED: There is no article in the literature correlating only craniofacial abnormalities in twins. Since 1985 the Tygerberg Craniofacial Unit has treated nine pairs of twins. In this retrospective study, the authors correlate the craniofacial and systemic anomalies with the specific twin type. BACKGROUND: The frequency of human twinning varies from 1 in 30 to 1 in 150 pregnancies. These can be monozygotic (MZ) or dizygotic (DZ). Monozygotic or identical twins occur when a single ovum is fertilized, so the twins possess an identical set of nuclear genes. DZ twins result from the fertilization of two separate ova. FINDINGS: Of the nine sets of twins, six were MZ (identical) and three DZ. Twelve patients presented with craniofacial abnormalities (CFA), which ranged from deformational plagiocephaly, scaphocephaly, trigonocephaly, to frontonasal dysplasia. Craniosynostosis was the most common CFA. Associated abnormalities included facial, limb, and cardiac defects. CONCLUSION: Twins with CFA are rare. The authors found that MZ twins are affected more and are more likely to have both siblings affected. DZ twins are affected less and are unlikely to have a co-twin affected.

Abnormalities, Multiple↗
PubMed2000

[Craniofacial abnormalities].

Most craniofacial malformations result from a premature fusion of skull sutures. Depending on the scope of the sutures affected, the results are more or less distinct deformations of the facial and cranial skull with substantial negative effects on functional as well as esthetic aspects. The etiopathology is still unclear. Various therapies have been developed over the past 100 years. However, Tessier's technique of fronto-orbital advancement has been an important milestone in the treatment of these malformations. Numerous adjustments have since perfected this operational technique. It is now possible to treat practically all skull malformations with the surgical techniques available today. At the same time, these techniques have also aided the advancements in tumor surgery and traumatology.

Child↗
PubMed1998

[MRI 3D imaging of the orbits in craniofacial abnormalities and injuries].

Craniofacial malformations and trauma often lead to changes in orbital soft tissues that require operative correction of both hard and soft tissues. CT scan and 3D reconstructions are optimal tools for the evaluation of the bony structures but there is no equivalent for the orbital soft tissues. The aim of this study was to establish a 3D-MRI technique that allows differentiated visualization of the different soft-tissue types of the orbit. A total of eight patients with different pathologic conditions of the orbit were examined. Five of these patients came for secondary correction after trauma and three showed a craniofacial malformation. 3D reconstruction was performed in volume-rendering technique after acquisition of 3 mm axial slices. It was shown that differentiated visualization of the orbital soft tissues is possible. Even though the thin bony structures have a weak signal and therefore the imaging is poor, the globe could be reconstructed reliably by different radiologists because of its circular delimitation from the bone. This technique provides additional support in the planning of orbital operations.

Craniofacial Abnormalities↗
PubMed2001

Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome.

OBJECTIVES: To examine the prevalence and nature of craniofacial abnormalities in patients with Marfan's syndrome and to investigate the relationship between craniofacial abnormalities and obstructive sleep apnea (OSA) severity in these patients. DESIGN: Cross-sectional. SETTING: Marfan's syndrome clinic in a tertiary teaching hospital. PATIENTS: Fifteen consecutive adult patients (7 men and 8 women; mean [+/- SD] age, 34.8 +/- 13.2 years) who had Marfan's syndrome. MEASUREMENTS AND RESULTS: Apneic status was determined from standard overnight polysomnography testing. Measurements from standardized lateral cephalometric radiographs were compared to normative data. Thirteen patients had OSA, which was defined as an apnea/hypopnea index (AHI) of > 5 episodes per hour (mean AHI, 22 +/- 15 episodes per hour). A high prevalence of craniofacial abnormalities was found with significant gender differences for some of the variables. Significant abnormalities for the entire group were bimaxillary retrusion, a reduced maxillary length, an increased total anterior face height, a long lower anterior face height, an obtuse gonial angle, a steep mandibular plane, a reduced posterior nasal airway height, a reduced posterior airway space, and an increased distance from the mandibular plane to the hyoid bone. Univariate analysis revealed significant correlations among the total anterior face height, the upper anterior and posterior face heights, the mandibular length, and AHI. There was a significant correlation between the rank of the number of cephalometric abnormalities per patient and AHI in those patients with OSA. CONCLUSIONS: Craniofacial abnormalities are common in patients with Marfan's syndrome. The relationship between some cephalometric parameters and apnea severity suggests a potential role of craniofacial structure in the pathogenesis of OSA in these patients.

Adult↗
PubMed1997

Abnormal craniofacial growth and early mandibular osteoarthritis in mice harbouring a mutant type II collagen transgene.

Skull morphology and histology in the heterozygous offspring of a transgenic founder mouse Del1, harbouring 6 copies of deletion mutation in Col2a1 gene, were compared with those in normal siblings. On visual observation and roentgenocephalometric examination the heads of heterozygous Del1 mice were smaller than normal. Histologically the sizes of cartilaginous structures of the cranial base were reduced. Severe defects were seen in the temporomandibular joint as progressive osteoarthritic lesions. These observations elucidate the relationship between the genotype and phenotype and demonstrate that heterozygous Del1 mice are a useful model for studies on a genetic disturbance where 'clinical' manifestations are not evident until adult age.

Animals↗
PubMed1998

The genetic basis of normal and abnormal craniofacial development.

In recent years our knowledge of the genetic mechanisms behind animal development has increased exponentially, and it has become apparent that these mechanisms have been conserved to an astonishing extent during evolution. In this review some important groups of developmental regulatory genes are introduced, and their roles are discussed in the context of craniofacial morphogenesis. Transcription factors regulating both the identity and patterning of embryonic structures and the development of individual organs are often called master regulatory genes. These genes, as well as other transcription factors, are parts of signaling networks mediating cellular communication, including inductive interactions between nearby tissues. Experimental studies, in particular the genetic analysis of mouse development, continue to demonstrate important roles for increasing numbers of these developmental regulatory molecules, including the actual signals, their receptors, and transcription factors in the development of the jaws, cranial bones, and teeth. Molecular genetic studies have shown that mutations in the genes of the signaling networks cause a variety of human craniofacial defects.

Animals↗
PubMed1999

The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis.

There is growing evidence that implicates a role for Sonic hedgehog (SHH) in morphogenesis of the craniofacial complex. Mutations in human and murine SHH cause midline patterning defects that are manifested in the head as holoprosencephaly and cyclopia. In addition, teratogens such as jervine, which inhibit the response of tissues to SHH, also produce cyclopia. Thus, the loss of SHH signaling during early stages of neural plate patterning has a profound influence of craniofacial morphogenesis. However, the severity of these defects precludes analyses of SHH function during later stages of craniofacial development. We have used an embryonic chick system to study the role of SHH during these later stages of craniofacial development. Using a combination of surgical and molecular experiments, we show here that SHH is essential for morphogenesis of the frontonasal and maxillary processes (FNP and MXPs), which give rise to the mid- and upper face. Transient loss of SHH signaling in the embryonic face inhibits growth of the primordia and results in defects analogous to hypotelorism and cleft lip/palate, characteristics of the mild forms of holoprosencephaly. In contrast, excess SHH leads to a mediolateral widening of the FNP and a widening between the eyes, a condition known as hypertelorism. In severe cases, this widening is accompanied by facial duplications. Collectively, these experiments demonstrate that SHH has multiple and profound effects on the entire spectrum of craniofacial development, and perturbations in SHH signaling are likely to underlie a number of human craniofacial anomalies.

Animals↗
PubMed1996

Craniofacial abnormalities in obstructive sleep apnoea: implications for treatment.

Obstructive sleep apnoea (OSA) is a common disorder, and is characterized by repetitive closure of the upper airway during sleep. Upper airway narrowing and sleep-induced loss of muscle tone are important factors in the development of OSA. Over the last decade there has been a growing recognition that craniofacial abnormalities occur commonly in OSA patients. The more commonly identified abnormalities include mandibular deficiency, an inferiorly placed hyoid bone relative to the mandibular plane, a narrowed posterior air space, a greater flexion of the cranial base, and elongation of the soft palate. It is thought that these abnormalities result in upper airway narrowing, thereby predisposing to OSA. When the well established role of obesity in the development of OSA is taken into account, a model of OSA emerges in which the degree of craniofacial abnormalities determines the extent of obesity required to produce OSA in a given individual. The recognition of the role of craniofacial abnormalities in the development of OSA has led to a number of treatment strategies aimed at correcting or improving craniofacial structure, thereby preventing upper airway collapse during sleep. These treatments include dental appliances, and various maxillofacial surgical procedures. An improved understanding of the evolution of OSA from childhood to adulthood, in relation to facial development, may lead to a preventative strategy for this disorder.

Cephalometry↗
PubMed2006

Prevention of retinoic acid-induced early craniofacial abnormalities by folinic acid and expression of endothelin-1/dHAND in the branchial arches in mouse.

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. In the whole embryo culture, 1.0 and 0.1 mm-folinic acid dose dependently prevented branchial region malformations and decreased defects by 93 % and 77 %, respectively. Folinic acid at concentrations of 1.0 and 0.1 mm significantly increased ET-1 and dHAND protein expression levels compared to retinoic acid-exposed values in embryonic branchial areas. Folinic acid also increased ET-1 and dHAND mRNA levels in the same region. The present results suggest that folinic acid may prevent retinoic acid-induced craniofacial abnormalities via increasing ET-1 and dHAND levels in the branchial region during the organogenic period.

Animals↗
PubMed2003

[Role of three dimensional spiral CT in the evaluation of craniofacial abnormalities in pediatric patients].

Technological advances in computer image analysis have made possible three-dimensional surface reformations of anatomic structures from contiguous axial CT silices. Three-dimensional spiral CT is a relatively new method and it is very useful in the diagnosis and management of craniofacial abnormalities. The purpose of this pictorial review is to assess the role of three-dimensional spiral CT in the evaluation of craniofacial abnormalities including craniosynostosis, hypertelorism, frontonasal dysplasia, hypoplasia of mandible, encephalocele and trauma in paediatric patients.

Child↗
PubMedDate not supplied

Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia.

The purpose of the present investigation is to describe and discuss the craniofacial abnormalities in young and adult patients with cleidocranial dysplasia (CCD). Skull radiographs of 52 CCD patients were examined. Thirty-six patients were adult, 16 were between 7 and 16 years old. Facial photographs were available in 30 cases, and in one adult case with cranial CT scans, 3-D reconstructions were carried out. High quality photographs of six CCD skulls were also described. The paranasal sinuses were absent or diminished in all children and most adult patients. An inverted pear-shape of the calvaria and an open anterior fontanelle were present in more than 60% of the cases. In the cranial base an upward distortion of the clivus, an anteverted foramen magnum, and extremely narrow choanae were frequent traits, together with small sella and bulbous dorsum sellae. Nearly all patients and dry skulls showed hypoplasia or absence of nasal bones. The zygomatic arches were diminished or incomplete in all cases. Mandibular morphology was judged to be syndrome specific with the slender, upward-backward-pointing coronoid process. We have concluded that a great part of the abnormal qualitative traits are present to a lesser degree in CCD children, indicating a progressive abnormal development with advancing age. From the present and previous studies on CCD we have hypothesized that on top of their generalized reduction of growth potential, these patients suffer from a combination of skeletal immaturity resulting in deformations and a defective bone remodeling. We have acknowledged the importance of longitudinal investigations in order to ameliorate the understanding of the pathogenesis of CCD and thereby to improve total patient care. Correction of the craniofacial abnormalities may be advocated in the most severe cases of hypertelorism and midfrontal groove, if psychosocial problems occur. Also, patients with major midface underdevelopment might benefit from combined orthodontic/surgical correction.

Adolescent↗
PubMed2002

New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.

We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.

Abnormalities, Multiple↗
PubMed1994

Three-dimensional computed tomography imaging in the evaluation of craniofacial abnormalities.

A retrospective study was undertaken to assess the value of three-dimensional computed tomography (3-D CT) in evaluating craniofacial abnormalities. Over a 2-year period, 145 children evaluated with routine two-dimensional (2-D) CT had 3-D CT reformatted images assessing a variety of anomalies including craniosynostosis, midface clefts, trauma, and craniofacial syndromes. There were 62 females and 83 males ranging in age from 1 month to 17 years (median: 5 months). Both soft-tissue and bone algorithms were used. In all 145 cases, the 3-D CT images confirmed or provided additional information of depth perception, contours, volumes, and extent of an abnormality. This was especially important and useful in the settings of complex anomalies and preoperative planning. We concluded that 3-D CT reconstructed images in conjunction with routine 2-D CT should be an integral part of the examination in evaluating craniofacial abnormalities.

Adolescent↗
PubMed2004

The airway in patients with craniofacial abnormalities.

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions that may alter normal anatomy and therefore anaesthetic management include cleft lip and palate with or without Pierre Robin syndrome, craniofacial dysostosis, mandibulofacial dysostosis/Treacher Collins syndrome, hemifacial microsomia, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, trisomy 21/Down's syndrome, Freeman-Sheldon/whistling face syndrome/craniocarpotarsal dysplasia, fibrodysplasia ossificans progressiva, mucopolysaccharidosis and vascular malformations.

Anesthesia, Inhalation↗