micrognathism/adipositas

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Transoral mucosal excision sutured gastroplasty: a pilot study for GERD and obesity with two-year follow-up.

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BACKGROUND An outpatient transoral endoscopic procedure for gastroesophageal reflux disease (GERD) and obesity would be appealing if safe, effective, and durable. We present the first in human experience with a new system. METHODS Eight patients with GERD (3) and obesity (5) were selected according

[Nocturnal pulse oximetry indicators in the evaluation of obstructive sleep apnea syndrome in outpatients with concomitant diseases of the upper respiratory tract and overweight].

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OBJECTIVE By using mathematical modeling, to evaluate the impact of upper respiratory tract diseases, retro- and micrognathia, and body mass index (BMI) on nocturnal pulse oximetry indicators (oxygen saturation level and oxygen desaturation index) in outpatients examined for suspected obstructive

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

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Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics-associated gene, CREBBP. To date, there is no cohort study of

Obstructive sleep apnea syndrome in children: a state-of-the-art review.

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Snoring and obstructive sleep apnea are a frequent problem not only in adults, but also in children and adolescents, as can be seen from current epidemiological data. The epidemiology, etiology, diagnosis, and management of obstructive sleep apnea syndrome (OSAS) in adults have been adequately

A Comparison of Early Versus Late Prenatal Magnetic Resonance Imaging in the Diagnosis of Cleft Palate.

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Prenatal ultrasound is the standard modality to screen for fetal craniofacial malformations, but can be limited by sonographer experience, oligohydramnios, and maternal obesity. Fetal magnetic resonance imaging (MRI) can be used as an adjunct to ultrasound, but there is a paucity of

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

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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

Anatomy of oral respiration: morphology of the oral cavity and pharynx.

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The anatomical states of the oral cavity and pharynx during mouth breathing in children with adenoid hypertrophy and in adults confirmed the speculation that mouth breathing is disadvantageous compared with nose breathing. In addition, comparison of the anatomical state between wakefulness and sleep

[Sleep-apnea syndrome. Elucidation, therapy and course].

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Of 22 patients investigated for sleep disorders, habitual snoring and/or daytime hypersomnolence, 12(10 men) had obstructive sleep apnea syndrome (OSAS). 3 OSAS were mild, 5 moderate and 4 severe. The leading symptoms were daytime hypersomnolence and habitual snoring. As risk factors we found

Physical features of Prader-Willi syndrome in neonates.

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A retrospective study of 16 patients was undertaken to identify physical features that may typify neonates with Prader-Willi syndrome. Several features known to be typical of Prader-Willi syndrome in early infancy were confirmed, including hypotonia and genital hypoplasia. A number of features that

Anesthetic and airway management of general anesthesia in a patient with Meckel-Gruber syndrome.

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Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.

Cephalometric evaluation of craniofacial and upper airway structures in Japanese patients with obstructive sleep apnea.

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In order to investigate the morphological characteristics of Japanese patients with obstructive sleep apnea (OSA) and basis for selection of an oral appliance (OA) therapy, the craniofacial skeleton, soft tissue and upper airway were analyzed on lateral cephalograms from 103 patients with OSA and 98

[Diagnosis and treatments of craniomaxillofacial deformities with OSDB].

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Obstructive sleep disordered breathing (USDB) is a common diseases which caused by upper airway(UA) occlusion, muscle tone problems and collapse of upper airway etc. The article introduces how to select surgical treatment protocol. First, it is necessary of PSG and upper airway evaluation. Then, it

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.

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Maternal uniparental disomy for chromosome 14 (upd(14)mat) causes clinically discernible features such as pre- and/or postnatal growth failure, hypotonia, obesity, small hands, and early onset of puberty. The monoallelic expression patterns at the 14q32.2 imprinted region are tightly related to

Rubinstein-Taybi Syndrome in a 19-years old boy.

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BACKGROUND Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland. OBJECTIVE Presentation of a case of a 19-year-old patient with

The Cohen syndrome: report of a case.

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We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central

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