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muscle hypotonia/zahnkaries
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The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy.
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This manuscript describes a case of a 4-year-old child with Down syndrome involving hypotonia in which the use of sweets to induce oral muscular function contributed to the need to extract all the primary teeth due to extensive caries. The need for interdisciplinary education and practice targeted
[Tonus of respiratory muscles in acetycholine hypotonia (author's transl)].
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The importance of respiratory muscles in relation to circulation and ventilation was investigated in acute hypotonia after acetylcholin injection. The tonus of respiratory muscles was assessed by measuring the circumference of chest and abdomen. Changes of volume of the body cavities were examined
Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.
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Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria.
[Removal of luxated crystalline lenses by intravitreal phaco-emulsification].
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OBJECTIVE
To present the complex surgical technique used for the management of luxated crystalline lenses and to evaluate results of this treatment.
METHODS
Between May 2001 and February 2002, ten patients (ten eyes) were treated for crystalline lens luxation. There were 4 females and 6 males in
[Serious complications of umbilical venous catheterisation].
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Three male newborns, born at 30 weeks, 36 weeks and at term, respectively, developed serious complications related to umbilical venous catheters. The first patient had persistent bacteraemia due to a cardiac thrombus. He recovered after treatment. In the second patient, the umbilical venous catheter
Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.
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We present a 10-year-old boy from nonconsanguineous parents of Libyan (Sephardi) Jewish origin. Mild dysmorphism, hypotonia, and clubfoot deformities were noted at birth. On follow-up, he had borderline intelligence and nonprogressive muscle weakness, predominantly in the upper extremities. Physical
Rapid maxillary expansion and nasal patency in children with Down syndrome.
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Down syndrome (DS) is the most common aneuploid disorder at birth. The life expectancy of persons with DS has improved over the last forty years and is now at about sixty years. Phenotypic characteristics include general hypotonia, maxillary hypoplasia with a small oral cavity and a somewhat larger
Single site laparoscopic gastrostomy with a 4-mm bronchoscopic optical grasper.
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Percutaneous endoscopic gastrostomy (PEG) is a common technique for gastrostomy placement. However, certain children may not be candidates for PEG, such as those with craniofacial or foregut anomalies and prior surgery. Laparoscopic gastrostomy has also gained popularity, but this requires 2 or 3
Special Care Dentistry in a Patient with Prader-Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia.
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Prader-Willi syndrome described in 1956 has a genetic origin, affecting both genders, varying in presence and intensity from individual to individual. A precocious diagnosis, before the manifestation of symptoms, has brought some improvement in the quality of life of the carriers in the last years.
The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.
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BACKGROUND
Prader-Willi syndrome (PWS) is a rare disorder caused by genetic defects in certain regions of chromosome 15q11-13. It is characterized by severe neonatal hypotonia and feeding problems, childhood-onset hyperphagia and obesity, short stature, facial dysmorphy, hypogonadism, learning and
[Cytogenetic and clinical aspects of Prader-Willi syndrome].
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Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo"
Symptoms of hypovolemic shock during the induction of general anaesthesia in a patient with large vascular malformation--an adverse effect of propofol and sevoflurane?
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BACKGROUND
Venous malformations are the second most common congenital vessel anomaly. In our hospital, we conduct up to 30 sclerotherapies with 1-3% aethoxysclerol annually in children of all ages. The procedure is invasive and painful and therefore requires general anaesthesia.
METHODS
A
Prader-Willi syndrome: report of a case with special emphasis on oral problems.
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A case with Prader-Willi syndrome (P.W.S.) is reported. The patient manifests: obesity, hypogonadism, hypotonia, mental retardation, small hands and feet, prominent forehead, bitemporal narrowing, strabismus, hypoplastic teeth, generalized caries and thick, sticky saliva. The patient is presented at
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.
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We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched
Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.
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Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism. This case report concerns an 11-year-old patient with MMA-HC, which developed during the neonatal period. The patient shows some of the facial features
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