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[Comparison of cephalometric parameters in patients with sleep apnea syndrome and normal individuals].

BACKGROUND: Craniofacial abnormalities which predispose to pharyngeal obstruction can be detected by cephalometry. The aim of the present study was to compare cephalometric findings of the patients with sleep apnoea syndrome (SAS) with those of healthy population. METHODS AND RESULTS: The SAS patients (23 females, 96 males) and normal population (36 females, 50 males) were examined by cephalometry. In the group of females with SAS following significant differences were observed: elongation of the soft palate (p < 0.001), narrowing pharyngeal airway space (p < 0.001), mandibular retrognathism (p < 0.05), micrognathism of the mandible (p < 0.001), dorsocaudal rotation of the mandible (p < 0.01), increased lower gonion angle (p < 0.001) and the articular angle (p < 0.05), increased anterior facial height (p < 0.05), narrowing the depth of bony framework of the nasopharynx (p < 0.001), decreased depth of the upper face (p < 0.01) and decreased length of the cranial base (p < 0.01). In the group of males with SAS, following significant differences were observed: elongation of the soft palate (p < 0.001), narrowing pharyngeal airway space (p < 0.001), decreased depth of the maxilla (p < 0.001), decreased angle of the cranial base (p < 0.01), decrease saddle angle (p < 0.01), decreased depth of the upper face (p < 0.01), increased lower gonion angle (p < 0.01), increased articular angle (p < 0.001) and increased anterior and posterior facial height (p < 0.001). CONCLUSIONS: There are important differences in orofacial skeleton and soft tissue of the nasopharynx measured by cephalometry in the patients with sleep apnoea compared to normal population.

Adult↗

[Binder's syndrome--symptoms and treatment].

INTRODUCTION: The flat dorsum and short septum of the nose, enlarged nasal angle, small naso-labial angle, maxillary micrognathism, and augmented upper lip, what makes the concave midface profile are the symptoms of Binder syndrome (maxillonasal displasia). The treatment consists of nasal and maxillary correction followed by orthodontic rehabilitation. MATERIAL AND METHODS: Five cases affected with Binder syndrome (age: 5-20 years old) were observed. Two patients were surgically treated in age 14 and 20-year-old. Nose correction was performed--elongation of skin nasal septum and bone graft to dorsum. Three patients need the orthodontic treatment of occlusal class III. There was no indication to corrective osteotomy of maxilla. RESULTS: Five year long-term result after surgical nose correction is excellent. CONCLUSIONS: The treatment schedule in Binder syndrome depends on the progress of the symptoms in the face occlusion. Surgical treatment can be limited only to reconstruction of the nasal dorsum and apex or additionally maxillary advancement. Grafting to the osteo-chondral scafold of the nose can be carry out from 14-year-old, and osteotomy of the nose or maxilla should be planned after 18-year-old. Every patient affected with maxillonasal displasia requires consultation and orthodontic treatment.

Adolescent↗

69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.

A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).

Abnormalities, Multiple↗

Trisomy 17p due to A t(5;17) (p15;p11) pat translocation.

A 6-month-old Japanese boy with trisomy 17p, resulting from a paternal balanced translocation t(5;17)(p15;p11), is described. Comparison of his clinical features with those of two previously reported patients with trisomy 17p revealed a characteristic combination of clinical features. They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the palpebral fissures, a broad nasal bridge, and micrognathism, low-set, large and simple ears, a short and webbed neck, and flexion deformities of the fingers. The external genitalia in the two male patients were characterized by a small penis, undescended testes and a hypoplastic scrotum. Congenital cardiac defect was present in two of the three patients.

Abnormalities, Multiple↗

Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features.

The authors describe a boy with a triangular face, wide forehead, telecanthus, large ears, prominent root of the nose, long and bulging philtrum, thin upper lip, everted lower lip, high arched palate, micrognathism, pointed chin, overriding toes, joint laxity, and mild mental retardation. Cytogenetic investigation disclosed the presence of an added chromosome, a very small acrocentric, consisting in the presence of the last band of the short arm of chromosome 17. This anomaly results from a 3:1 mal segregation of a balanced (13q17p) reciprocal maternal translocation leading to a trisomy 17pter. This is a previously undescribed chromosome anomaly.

Abnormalities, Multiple↗

Hypersomnia with periodic apneas in acquired micrognathia. A bird-like face syndrome.

We describe a syndrome characterized by acquired micrognathia, hypersomnia, and periodic apneas during sleep. Six patients affected with the syndrome underwent nocturnal and diurnal polygraphic recordings that demonstrated that during sleep there is an uninterrupted succession of apneas, primarily the obstructive type, analogous to those observed in Pickwickian syndrome. Simultaneous recording of pulmonary and systemic arterial pressure during sleep and repeated blood gas analyses have shown that as soon as the apneas appear there is a decisive increase in pulmonary and systemic pressure and serious alveolar hypoventilation. The hemodynamic and ventilatory changes are even more intense during rapid eye movement sleep. Tracheostomy, performed on five of our patients, is the only treatment producing complete clinical remission of the syndrome.

Adult↗

Hypersomnia-sleep apnea due to micrognathia. Reversal by tracheoplasty.

A 67-year-old woman with acquired micrognathia developed severe daytime hypersomnia, loud snoring, nocturnal enuresis, encopresis, and hypertension. A polysomnogram demonstrated 564 sleep apneas, primarily obstructive, recurrent hypoxia, a bradytachycardia, and absent stages III, IV, and REM sleep. Endoscopy during sleep revealed recurrent active closure of the upper pharynx associated with loud snoring. A tracheoplasty was done because of severity of symptoms and failure of conservative therapy. Dramatic improvement in sleepiness and hypertension occurred within 48 hours. On postoperative night 15 a repeated polysomnogram showed only 23 apneas, no hypoxia or bradytachycardia, and long periods of stage II, IV, and REM sleep. Patients with the hypersomnia-sleep apnea syndrome should be provided with a tracheal opening during sleep when severe daytime somnolence, cardiac arrhythmias, and hypertension are present.

Aged↗

Mandibular distraction osteogenesis in a neonate.

Children with craniofacial anomalies are predisposed to airway obstruction and frequently require airway intervention. Tracheotomy is performed when the airway obstruction is severe and refractory to other less invasive interventions. Tracheotomy is associated with significant morbidity, and there is a trend noted in the literature toward achieving earlier decannulation by the institution of definitive structural changes to the mandible. Mandibular distraction osteogenesis has been shown to alleviate airway obstruction in the pediatric population. We report a case in which mandibular distraction osteogenesis was successfully carried out in a neonate with acute airway obstruction at birth as a result of combined Pierre Robin sequence and Klippel-Feil syndrome. After 1 year, the patient still had an adequate airway with tolerable scarring and no neurologic sequelae.

Airway Obstruction↗

Double-sliding genioplasty for correction of severe micrognathia.

Profile correction of cosmetically deforming micrognathia in patients with functional occlusion may be attained by the foreshifting of multple horizontal oblique osteotomy segments of the anterior mandible. We discuss the development, limitations, advantages, preoperative evaluation, and surgical technique of this method.

Adult↗

Ear-nose-throat abnormalities in the CHARGE association.

A comprehensive evaluation of the otolaryngological abnormalities in 50 patients with colobomata, heart defect, atresia of the choanae, retarded growth or development, genital hypoplasia, and ear anomalies or deafness (CHARGE) was performed. All the patients had ear abnormalities; 96% (48/50) had malformed pinnae, and 54% (27/50) had facial nerve palsies. Only 8% (4/50) had normal hearing, the commonest hearing defect being severe conductive or mixed loss. Eighty-four percent (42/50) of computed tomographic scans of the temporal bone were abnormal, the characteristic abnormality being the combination of a hypoplastic incus and absent semicircular canals. Eighty-six percent (43/50) of patients had upper airway abnormalities. Posterior choanal abnormalities occurred in 56% (28/50), and 42% (21/50) had retrognathia leading to intubation difficulties. Laryngotracheal abnormalities occurred in 38% (19/50), and 14% (7/50) required tracheostomies. Careful upper airway assessment is essential to avoid potentially lethal complications such as aspiration.

Abnormalities, Multiple↗