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Results for “Maxillofacial Abnormalities”

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At least 109 records · Page 6Linked to original sources
PubMed2006

A report of two cases with dolichosegmental intracranial arteries as a new feature of PHACES syndrome.

BACKGROUND: We describe two previously unreported cases with complete or incomplete expression of PHACES syndrome, a rare congenital syndromal pediatric disorder, which is characterized by posterior cranial fossa malformations, large facial hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, abnormalities of the eye, sternal and supraabdominal raphe defects. CASE REPORTS: These two children exhibited a feature not reviewed extensively in the literature, namely, segmental elongation and dilatation of intracranial arteries associated with intracranial occlusive arterial disease, predominantly on the anterior division of the internal carotid artery (ICA) and on the P2 segment of the posterior cerebral artery. This dolichoectasia was found at the distal cervical internal carotid artery, the intradural segment of the ICA before the division, the trigeminal artery, and the posterior division of the ICA. We presume that the different forms of arterial involvement in PHACES syndrome (arterial stenoses, segmental agenesis of vessels, and the dolichoectasia described in this study) constitute a spectrum of angiogenetic dysfunctions related to an embryonic event involving several cephalic neural crest segments of the dorsal aorta.

Brain↗
PubMed2000

[Clinical manifestations of CHARGE association in the area of the mouth, jaw and face].

Clinical experience of 11 patients with CHARGE association is reviewed. The study comprised six girls and five boys. All presented with congenital heart disease. Eight had bilateral choanal atresia. Coloboma affecting either one or both eyes was detected in nine children. Nine patients suffered abnormal pinnae or deafness. In addition to major abnormalities, further anomalies of the orofacial region and the upper airways occurred in all patients. All children exhibited velopharyngeal incoordination and swallowing problems often resulting in recurrent aspiration pneumonia. Three patients had cleft lip and palate. Both micrognathia and high-arched palate were present in two patients. Facial palsy was observed in six patients. Optimal management requires a multidisciplinary approach with active coordination and cooperation between the appropriate specialties. The anatomical repair of bilateral choanal atresia should be performed as early as possible. In our experience, the transpalatal approach is far more satisfactory than the transnasal. It gives the surgeon the opportunity of direct access and anatomical repair. After the child has grown stronger, a long-term management is desirable including developmental and feeding training.

Abnormalities, Multiple↗
PubMed2000

The prenatal pituitary gland--hidden and forgotten.

The sella turcica and pituitary gland in a human fetus (18 weeks gestation) with unilateral oro-ocular cleft combined with unilateral cleft lip and palate are described histologically. In this fetus the sella turcica was not a normal sella but a caudally open funnel. The adenopituitary gland tissue was positioned ectopically within the funnel canal and in the pharyngeal submucosa.

Abnormalities, Multiple↗
PubMed1999

The role of laser surface imaging in the evaluation of craniomaxillofacial disorders: the Singapore General Hospital experience.

The medical profession today, has the choice of many imaging techniques for documenting, investigating, assessing or planning treatment. Amongst them, the laser surface imaging system is emerging as a useful tool to capture and store digital data for reformatting into a three-dimensional computer model. The laser scanning system captures only the surface morphology of a subject, and is highly appropriate for the evaluation of surface morphological changes of craniofacial disorders. Although originally acquired for the study of facial anthropometry, many other clinical uses have been found for the scanner and this paper describes our experience with the laser scanner in our department. These include archival, preoperative assessments, projective linear and surface measurements, area measurements, comparative analysis, planning and prediction of surgical outcomes, and in the fabrication of physical models and external prostheses.

Cleft Lip↗
PubMed1983

The development and significance of septal and dental deformity from birth to eight years.

The septa of a series of 145 babies at birth was assessed into 3 types: type A--in the midline, type B--unilateral bending or kinking at the vomerine junction, type C--deformed to both sides. These were reassessed aged 5-6 years with the primary dentition present, and 90 cases reassessed aged about 8 years. In some there was a change to types B and C, but none changed to type A. Of 15 cases of external deformity of the nose at birth, 10 (66%) had irregularity of the columella. The children had dental examination and plaster casts made, an ear, nose and throat examination, and were photographed. The chances (which were statistically significant) of developing dental abnormalities and malocclusion, palatal asymmetry, upper respiratory tract infections and ear disease were found to be mostly in type B cases, less in type C cases and least in type A cases. Thus ear troubles were found in 45% type B, 25% type C and only 10% of type A cases. The palatal height was not related to any septal deformity.

Australia↗
PubMed1999

[Callus distraction of the midface. Requirements for diagnostic imaging].

Callus distraction of the midface is a recently developed surgical method for treatment of atrophic or hypoplastic maxillae. The treatment planning is based on individual shaped models, being constructed with the help of computed tomographic data. Our experience is based on 10 patients (3 male/7 female; age: 11-55 years). The demands for imaging are reported. The following imaging procedure is recommended: 1. preoperative: lateral x-ray, orthopantomogram, spiral CT, 2. during the time of callus distraction with normaly takes 4 to 5 weeks: lateral x-ray (every 10 days), and 3. for follow up: lateral x-ray and spiral CT. The Radiation exposure caused by the repetitive images is calculated in detail.

Abnormalities, Multiple↗
PubMed2006

Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs.

Cranium bifidum occultum is a rare skull ossification disorder referred to as the Catlin mark characterized by ossification defects in the parietal bones. Evidence suggests that this condition has a strong genetic heterogenicity. It is believed that, as calvarial growth continues, ossification in parietal bones fills these defects, and they can remain as parietal foramina on either side of the sagittal suture. During the conversion phase of cranium bifidum to the persistent parietal foramen, there will be periods when the brain is unprotected because of the delay in the ossification of the parietal bones. This report describes cranium bifidum occultum diagnosed as an incidental finding in a 14-year-old boy who initially had large bilateral unossified parietal bones and many congenital abnormalities. The patient underwent various surgical procedures over 6 years for the correction of cleft lip and palate. With craniofacial corrections and orthodontic treatment, the patient now has stable dentition and a firm palate with most of the parietal bones ossified. Cranioplasty was not recommended by his family physician after consultation with a neurosurgeon. Orthodontists should be familiar with this genetic abnormality because it causes delay in parietal bone ossification, and they should be able to distinguish between anatomic parietal foramina and enlarged parietal foramina (persistent unossified areas of cranium bifidum occultum), especially when craniofacial abnormalities are noticed.

Adolescent↗
PubMed2003

Nasal correction in maxillonasal dysplasia (Binder's syndrome): a long term follow-up study.

Maxillonasal dysplasia or Binder's syndrome is an uncommon though easily recognizable congenital condition characterized by a retruded mid-face with an extremely flat nose. The facial deficiencies lead to functional as well as psychological problems. We report on 10 patients with maxillonasal dysplasia whose noses were corrected with onlay costal cartilage grafts using a combined oral vestibular and external rhinoplasty approach. The technique has been used in children as well as adults with promising results. Since the degree of malformation in Binder's syndrome varies significantly surgical correction needs to be tailored individually based on the principles demonstrated. In all patients, minor malocclusion was first treated by orthodontists. Over a follow up period up to 14 years the advancement of the nose was found to be stable, even in lateral cephalograms. The treatment of these patients is a challenge for every surgeon and needs interdisciplinary cooperation.

Abnormalities, Multiple↗
PubMed2005

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway, a conserved proteolytic system whose substrates include proteins with destabilizing N-terminal residues. Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis. In addition, we found that Ubr1(-/-) mice, whose previously reported phenotypes include reduced weight and behavioral abnormalities, had an exocrine pancreatic insufficiency, with impaired stimulus-secretion coupling and increased susceptibility to pancreatic injury. Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.

Abnormalities, Multiple↗
PubMed2007

Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly).

The dysgnathia complex (agnathia-otocephaly) (AO) is a lethal malformation that consists of congenital absence of the lower jaw with union or close approximation of the lower ears on the front of the neck, microstomia, and hypoglossia. We present a novel case of agnathia-otocephaly with associated organomegaly and the use of postmortem 3-D computed tomographic rendering.

Abnormalities, Multiple↗
PubMed2000

[Study of CATCH 22: genetic aspects].

Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.

Abnormalities, Multiple↗
PubMed2005

Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by triad of vascular nevi, venous varicosities and hyperplasia of soft and hard tissues in the affected area. This syndrome usually affects the extremities but occasionally can manifest in the craniofacial region, including the oral cavity. We report a case of KTS and discuss the oro-surgical and dental considerations regarding hemorrhagic tendencies caused by the known local anomalies such as vascular malformations associated with this syndrome as well as systemic abnormalities.

Adolescent↗
PubMed2004

Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome.

Antley-Bixler syndrome was first described in 1975 and to date at least 44 cases have been reported. In addition to brachycephaly, this syndrome is associated with midface hypoplasia, bilateral radiohumeral synostosis, multiple joint contractures, long bone fractures, dysplastic ears, "pear shaped" nose, and occasionally urogenital or cardiac defects. The authors report a case in a 23-year-old man with severe midface deficiency treated using distraction osteogenesis. A modified Le Fort III osteotomy was performed, and nasal subunit and remaining Le Fort III segment was distracted separately. The classic RED II design was found to be insufficient, so the authors added an extra horizontal bar to the system and converted it to a RED III design. Midface advancement was 11 mm from the porion to the orbitale and 31 mm at point A. Nasal advancement at the nasal root level was 5 mm. There were no complications, and at 4 months after surgery, advancement was stable without any relapse.

Abnormalities, Multiple↗
PubMed2002

Nasomaxillary hypoplasia and severe orofacial clefting in a child of a mother with phenylketonuria.

The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital heart defects and developmental delay (Rouse et al 1997). We report a child born to a mother with poorly controlled PKU and suggest that the facial abnormalities seen in this child could be part of the specturn of maternal PKU embryopathy.

Cleft Lip↗
PubMed1997

Binder syndrome in a mother and her son.

Binder syndrome or maxillonasal dysplasia is characterized by maxillary hypoplasia and a flat, vertical nose. Inheritance is uncertain. We report on a mother and her son with Binder syndrome. The proband was the last child of a kinship of seven children. Three sisters, three brothers and the parents were normal. The proband had a maxillary hypoplasia and a flat, vertical nose. The columella was short, the nostrils had a triangular shape and the upper lip was convex with an acute nasolabial angle. There were no dental abnormalities apart from those secondary to malocclusion. Height and intelligence were normal. After an uncomplicated pregnancy, the proband delivered a boy who had low nasal bridge, hypertelorism, maxillary hypoplasia and a small nose with a broad columella. Although the majority of cases of maxillonasal dysplasia are sporadic, familial occurrence has been reported by a number of authors. In six pedigrees the recurrence was in second or third degree relatives. Recurrence in sibs with unaffected parents has been observed seven times and an affected parent and child has been rarely reported. The Binder phenotype may be heterogeneous. The pattern of abnormalities seen in this condition does not represent a causally defined entity.

Adult↗
PubMed2005

Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases.

Children with CHARGE syndrome commonly experience feeding and swallowing problems. Difficulties may be associated with congenital structural anomalies, motor impairment, and/or oral sensory impairment. For many children with CHARGE syndrome, the introduction of functional oral feeding is delayed and there are often long-term feeding complications. Oral aversion or defensiveness is a frequent serious issue; however, it is uncertain whether this is a primary sensory disorder or secondary to delayed and/or negative oral sensory and feeding experiences. This article examines in detail the early oral sensory and feeding experiences of five children with CHARGE syndrome, through a review of medical records and caregiver questionnaires. Findings indicate variable early oral sensory experiences in this group of children, with all of the children having some difficulty or delay in the development of oral feeding and swallowing. The nature of these difficulties and the potential contributory factors are discussed.

Abnormalities, Multiple↗