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PubMed1990

Congenital aglossia and situs inversus.

Lingual agenesis is a rare anomaly caused by failed embryogenesis of the lateral lingual swellings during the fourth and fifth gestational weeks. Most reported cases have been part of oromandibular limb hypogenesis syndromes. A review of the literature reveals two previously reported cases of congenital aglossia and situs inversus. A case of lingual agenesis associated with micrognathia and situs inversus is reported in a newborn presenting with upper airway obstruction at birth.

Humans↗
PubMed1990

Digital signal analysis of snoring sounds in children.

Snoring sounds of 5 children with sleep-dependent compromised breathing were recorded. Underlying diseases were large adenoids, adeno-tonsillar hyperplasia, hemangioma of the tongue-base and Rubinstein-Taybi's syndrome associated with micrognathia. For comparison snoring sounds of a 42-year-old chronic snorer were analyzed. Time series of the power spectral density of the breath sounds were calculated as well as the mean power spectra of the recordings. The results show that the frequency spectrum reflects the pathomechanism responsible for the production of the abnormal breath sound. In adults, simple snoring is due in large part to vibrations of the soft palate. This can be identified in the frequency spectrum as a low-frequency component with a large number of harmonics. In children with enlarged adenoids and tonsils the soft palate is impeded in its movement which can be demonstrated in the frequency spectrum as a lack of low-frequency components and harmonics. Craniofacial anomalies are characterized by special spectral patterns.

Adenoids↗
PubMed1993

Tongue hypoplasia in a newborn.

Congenital anomalies of the tongue are uncommon. Since de Jussieu first described lingual hypoplasia in 1719, fewer than 50 cases have been described. These are usually in association with the hypoglossia-hypodactylia syndrome. We present a case of a newborn with absent anterior tongue, a rudimentary posterior remnant and associated micrognathia. Embryology and theories of pathogenesis are discussed.

Congenital Abnormalities↗
PubMed1994

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling.

A female infant with hypoglossia-hypodactyly syndrome is presented. Her mother underwent chorionic villus sampling (CVS) at 9 weeks gestation. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United States. These seven CVS-related cases represent a significant increase over this syndrome's 'natural' incidence of 1 per 175,000 live births. An excess of limb reduction deformities has also been seen following CVS. These seven cases are reviewed, and the possible etiology of this rare condition is discussed.

Chorionic Villi Sampling↗
PubMed1983

The oral manifestations of 4p- syndrome.

The oral manifestations of 80 reported cases of 4p- syndrome are analyzed and a new case is reported. Results indicate that the common pattern of cheilognathopharyngeal disorders in 4p- syndrome is an isolated cleft palate or a high-arched palate with micrognathia. Cases of cleft lip are only about 10% of the total. The significance of other reported aberrant phenomena cannot yet be estimated.

Abnormalities, Multiple↗
PubMed1995

Anesthetic management of a patient with obstructive sleep apnea syndrome and difficult airway access.

Patients with the obstructive sleep apnea syndrome (OSAS) are predisposed to respiratory complications under the influence of sedative and anesthetic drugs because of these drugs' alternation of respiratory control with a tendency for upper airway collapse. Additional difficulties for airway management during anesthesia may arise if fixed anatomic obstacles block the upper airway. We present a case of a patient with OSAS scheduled for general anesthesia for nasal polypectomy and correction of a deviated septum. Preoperative evaluation revealed several factors known to be associated with difficult intubation and ventilation: nasal obstruction, maxillofacial malformation (micrognathia), reduced temporomandibular joint mobility, and obesity. An individualized strategy of airway management based on published standards was developed and successfully applied. It involved fiberoptic guided intubation through a laryngeal mask airway. This case illustrates the management of patients with OSAS and additional conditions that reduce upper airway patency.

Adult↗
PubMed2003

Cephalometric evaluation of the craniofacial complex in patients treated with an intraoral distraction osteogenesis device: a preliminary report.

The purpose of this pilot study was to evaluate cephalometrically the efficacy of an intraoral distraction osteogenesis device in treating patients with unilateral mandibular hypoplasia. Six patients with hemifacial microsomia underwent unilateral mandibular distraction. Posteroanterior and 45 degrees lateral oblique cephalograms were measured, and changes in maxillary width and height, occlusal height, ramus height, mandibular length, and chin position were quantified. Measurements were taken preoperatively and postoperatively at 7 time points (T1-T7) over 2 years. Calculations for statistical significance were done to T6 for all patients and through T7 for 4 patients. The means and variances were calculated for the 6 cephalometric variables for each time point. The mean differences between treatment and control were calculated as well as analysis of variance. Mean differences between specific time periods were measured by pairwise comparison with significance determined at the 0.05 level of confidence. Statistical analysis was used for descriptive purposes only. The cephalometric data suggest that the intraoral distractor is as capable of lengthening hypoplastic mandibles as the initial extroral appliances. The bone lengthening appears stable, with the distracted side of the mandible maintaining a growth rate similar to the normal side. Immediately after distraction, transient improvements were noted in maxillary height, ramal height, and maxillary width. All patients demonstrated an immediate improvement in chin position toward the skeletal midline; however, after T4, menton appeared to be moving away from the midline over time.

Adolescent↗
PubMed2005

Maxillary distraction osteogenesis to treat maxillary hypoplasia: comparison of an internal and an external system.

BACKGROUND: Distraction osteogenesis (DO) has become a mainstream surgical technique for patients with jaw deformities. In cases of maxillary hypoplasia, DO with a rigid external distraction (RED) system has been used for maxillary advancement; however, DO with internal devices is currently popular. MATERIALS: This article describes DO with an internal device and a RED system in 2 patients with maxillary hypoplasia with oligodontia. The first patient, a young girl, had a concave profile due to maxillary hypoplasia and 9 congenitally missing permanent teeth. At age 11 years 11 months, she received DO with an internal device. The second patient, a boy aged 11 years 7 months, was treated with DO with a RED system. RESULTS: In the girl, the maxilla was advanced 5.0 mm without any dentoalveolar compensation. In the boy, the maxilla was advanced 7.0 mm, but undesirable mesial movement of posterior teeth was observed. CONCLUSIONS: DO with internal devices is simpler and more useful than the RED system for maxillary hypoplasia with oligodontia.

Anodontia↗
PubMed2006

Mandibular morphology and growth with and without hypodontia in subjects with Pierre Robin sequence.

INTRODUCTION: Mandibular micrognathia is the hallmark of Pierre Robin sequence (PRS). A high prevalence of mandibular hypodontia has been reported in subjects with PRS. The hypothesis of this study is that the morphology of the mandible in subjects with PRS and mandibular hypodontia is different from that in subjects with PRS but without mandibular hypodontia. METHODS: The study was conducted at the craniofacial center of The Hospital for Sick Children in Toronto. The study sample comprised 16 caucasian children with nonsyndromic PRS (7 boys, 9 girls) with mandibular hypodontia and 18 white children with nonsyndromic PRS (6 boys, 12 girls) without hypodontia. Longitudinal lateral cephalograms were available before orthodontic treatment (T1; mean age, 11.7 years) and after orthodontic treatment but before orthognathic surgery (T2; mean age, 16.6 years). A new, customized cephalometric analysis with additional landmarks and measurements to study mandibular morphology was performed. Differences in measurements were studied by using analysis of variance adjusted for age and sex. RESULTS: Cephalometric measurements were smaller in the group with mandibular hypodontia at T1: mandibular length (3.36 mm, P = .04), ramal length (2.78 mm, P = .04), posterior facial height (3.97 mm, P = .03), and mandibular molar eruption (1.96 mm, P = .02). At T2, the differences increased: mandibular length (4.56 mm, P = .02), ramal length (4.04 mm, P = .002), posterior facial height (5.98 mm, P = .001), and mandibular molar eruption (2.08 mm, P = .04). Comparison of growth increments between the 2 groups from T1 to T2 showed a greater cranial base deflection increment in the group with mandibular hypodontia (0.88 degrees, P = .02) and a larger posterior facial height increment in the group without mandibular hypodontia (2.02 mm, P = .04). CONCLUSIONS: Children with nonsyndromic PRS with mandibular hypodontia had smaller mandibles than children with nonsyndromic PRS and normal complements of mandibular teeth. Their patterns of growth did not improve during adolescence, and the magnitude of differences increased.

Adolescent↗
PubMed2006

Correction of severe obstructive sleep apnea with bimaxillary transverse distraction osteogenesis and maxillomandibular advancement.

Obstructive sleep apnea (OSA) can be a debilitating, even life-threatening, condition. The most favorable treatment for patients with OSA is multidisciplinary care by a team that represents various dental and medical disciplines. Prescribed therapies might include weight loss, behavior modification, oral appliances, soft tissue surgery, skeletal surgery, or some combination of approaches. When orthognathic surgery has been used, often only the anteroposterior dimension is addressed, and the transverse dimension is overlooked. The treatment presented here demonstrates the important role that transverse expansion of the maxillary and mandibular arches can have for patients with severe OSA. An initial stage of maxillary and mandibular transverse distraction osteogenesis was performed, followed immediately by fixed orthodontic treatment. After appropriate orthodontic alignment, leveling, and coordination, a second surgical stage consisting of maxillary and mandibular advancement was performed. Marked enhancements in occlusion and facial morphology, and a profound improvement in the OSA, were obtained.

Cephalometry↗
PubMedDate not supplied

Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence.

Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance. We present a case of autosomal dominant inheritance from father to son; the seventh known case of dominant transmission. We also review the findings, inheritance pattern, and outcomes of Pierre Robin sequence that are useful in managing affected patients.

Abnormalities, Multiple↗
PubMed2004

[Cerebro-costo-mandibular syndrome. A case-report].

The cerebro-costo-mandibular syndrome is a rare and serious congenital disorder characterized by the association of posterior rib malformations, micrognatia and mental deficiency. Death due to respiratory failure is usual during the first days or months of life. The various clinical and radiological aspects of this disease are described based on a recent observation.

Abnormalities, Multiple↗
PubMed2004

Mandibular distraction: surgical refinements and long-term results.

Mandibular distraction is the treatment of choice for the surgical correction of mandibular hypoplasia. It is a less invasive and time-intensive technique and has a significantly decreased morbidity rate. The author's experience of lengthening mandibles for the past 12 years has shown that when the mandibular hypoplasia is more severe, better results will be obtained in the long term with earlier treatment. Orthodontics plays a very important role in correcting post-distraction occlusal changes and promoting balanced growth. The simultaneous expansion of the overlying soft tissues is the major advantage of this technique when it is compared with conventional osteotomies.

Adult↗
PubMed2004

Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia.

Watershed zone infarcts of the human cerebral cortex at the overlapping junctions of the anterior and middle cerebral arterial territories are well known. Another watershed zone exists in the brainstem tegmentum, between the terminal perfusion zones of the paramedian penetrating and long circumferential arteries, which are paired segmental vessels arising from the basilar artery. The vertebrobasilar circulation achieves its mature configuration and caudorostral flow by 9 weeks gestation. Systemic hypotension and other conditions of reduced basilar perfusion in the fetus, either early or late in gestation, may result in symmetrical longitudinal columns of infarction in the midbrain and tegmentum of the pons and medulla oblongata and laminar necrosis of the midbrain tectum. Within this zone are cranial nerve nuclei III-XII, the nucleus and tractus solitarius or central pneumotaxic center, as well as the nucleus ambiguus and other somatic motor nuclei that subserve muscles of swallowing, mastication and tongue movement. Watershed infarcts in the human fetal and neonatal brainstem are clinically expressed as multiple cranial neuropathies, failure of central respiratory drive and apnea, dysphagia and aspiration, Möbius syndrome and Pierre Robin sequence. MRI is sometimes helpful, but most of the involved neuroanatomical structures are beneath the resolution of present imaging techniques, and the diagnosis during life depends upon clinical neurological examination of the neonate, sometimes supported by evoked potential studies. Postmortem examination confirms the diagnosis and dates the lesions, but also contributes to better understand transient or persistent vascular insufficiencies in the fetal and neonatal brainstem.

Brain Stem Infarctions↗
PubMed2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

PURPOSE: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. METHODS: We collected patients with duplications encompassing ARID1A and ARID1B duplications. RESULTS: 16 ARID1A and 13 ARID1B duplication cases were included with duplication sizes ranging from 0.1 to 1.2 Mb (1-44 genes) for ARID1A and 0.9 to 10.3 Mb (2-101 genes) for ARID1B. Both groups shared features, with ARID1A patients having more severe intellectual disability, growth delay, and congenital anomalies. DNA methylation analysis showed that ARID1A patients had a specific methylation pattern in blood, which differed from controls and from patients with ARID1A or ARID1B loss-of-function variants. ARID1B patients appeared to have a distinct methylation pattern, similar to ARID1A duplication patients, but further research is needed to validate these results. Five cases with duplications including ARID1A or ARID1B initially annotated as duplications of uncertain significance were evaluated using PhenoScore and DNA methylation reanalysis, resulting in the reclassification of 2 ARID1A and 2 ARID1B duplications as pathogenic. CONCLUSION: Our findings reveal that ARID1B duplications manifest a clinical phenotype, and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole-gene duplication rather than haploinsufficiency.

Humans↗
PubMed2005

Maxillofacial intraoral distraction osteogenesis followed by elastic traction in cleft maxillary deformity.

We present a case of severe maxillary hypoplasia in a 16 years old cleft patient treated by distraction osteogenesis maxillary advancement. Initial evaluation showed vertical and antero-posterior maxillary deficiencies, and a Class III malocclusion. Two intraoral distractors (Zurich Pediatric Maxillary Distractor, KLS Martin, Tuttlingen, Germany) were placed in a high Le Fort I osteotomy. An initial advancement of 11 mm was obtained, but the resulting occlusion was unsatisfactory (end-to-end occlusion). The consolidation period was reduced to 3 weeks to allow the mechanical manipulation of the newly formed bone with Class III elastics. An additional advancement of 3 mm, caused by elastic orthodontic traction produced both normal skeletal relationship and satisfactory occlusion. This observation shows that it is possible to carry on a skeletal maxillary displacement by interdental elastics before the complete fusion of the callus. After 12 months of postoperative follow-up no osseous relapse could be detected and the occlusal result was stable.

Adolescent↗
PubMed2005

Multidirectional distraction osteogenesis for Crouzon syndrome: technical note.

This report describes multidirectional distraction osteogenesis in a patient with Crouzon syndrome. A RED system and a Hyrax expansion screw were used for lateral expansion of the maxilla. Advancement distraction osteogenesis and a Dyna Form were used for widening distraction osteogenesis of the mandible. The devices were fixed after a quadrangular osteotomy and a bimaxillary midline osteotomy.

Adolescent↗