osteochondrodysplasias/uppköst

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A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia.

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OBJECTIVE The purpose of this study was to report our experience with peripheral nerve blockade in pediatric and young adult patients with skeletal dysplasia undergoing knee arthroscopy. BACKGROUND The incidence of skeletal dysplasia is 1:4000 live births. These patients have biomechanical

Feeding difficulty in an infant: an unusual cause.

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A 10-month-old girl, with spondyloepiphyseal dysplasia congenita and posterior cleft palate had presented at 23 days of life with history of feeding difficulties. A diagnosis of oropharyngeal dysphagia and gastro-oesophageal reflux disease was made, for which she was started on nasogastric tube

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

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We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental

The etiology of osteosarcoma.

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Studies to determine the etiology of osteosarcoma involve epidemiologic and environmental factors and genetic impairments. Factors related to patient characteristics include age, gender, ethnicity, growth and height, genetic and familial factors, and preexisting bone abnormalities. Rapidly

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

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Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typically present with vomiting, diarrhea, irritability,

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

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Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial

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Herbal & Natural Medicine

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