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searching for Kyphoscoliosis 21 found (68 total)

Cyprus facial neuromusculoskeletal syndrome (223 words) [view diff] exact match in snippet view article find links to article

alongside other symptoms such as hypertelorism, widow's peak, low-set ears, kyphoscoliosis congenita, congenital clubfoot, hip dislocation, and arthrogryposis

X-linked recessive inheritance (1,754 words) [view diff] exact match in snippet view article find links to article

sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis as well as auditory and visual abnormalities. Fabry disease; A lysosomal

List of genes mutated in cutaneous conditions (108 words) [view diff] exact match in snippet view article find links to article

Epidermolysis bullosa simplex with muscular dystrophy PLOD Lysyl hydroxylase Kyphoscoliosis variant of Ehlers–Danlos syndrome PPARG Köbberling–Dunnigan syndrome

Dystroglycan (1,615 words) [view diff] exact match in snippet view article find links to article

(January 1995). "Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis". Genomics. 25 (1): 207–213. doi:10.1016/0888-7543(95)80127-8. PMID 7774920

FKBP14 (377 words) [view diff] exact match in snippet view article find links to article

in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss". The American Journal of Human Genetics

Kyphosis (2,059 words) [view diff] exact match in snippet view article find links to article

Singh H (October 1999). "Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients". The Journal of Bone and

GM1 gangliosidoses (1,071 words) [view diff] exact match in snippet view article find links to article

demineralization; thoracolumbar vertebral hypoplasia and beaking at age 3–6 months; kyphoscoliosis. *Dysostosis multiplex (as in the mucopolysaccharidoses) 10–80% of peripheral

SMS (gene) (519 words) [view diff] exact match in snippet view article

"X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12". Am. J. Med. Genet. 64 (1): 50–8. doi:10

Halo-gravity traction device (5,181 words) [view diff] exact match in snippet view article find links to article

found that HGT resulted in reduced bone density among patients with kyphoscoliosis. However, little other research has investigated this potential side

Alveolar–arterial gradient (1,490 words) [view diff] exact match in snippet view article find links to article

diseases such as myasthenia gravis, poor chest elasticity as seen in kyphoscoliosis or patients with vertebral fractures, and many others. Patients with

ARST (1,732 words) [view diff] exact match in snippet view article find links to article

people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one

CRLF1 (931 words) [view diff] exact match in snippet view article find links to article

features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender

LAF5 (1,167 words) [view diff] exact match in snippet view article find links to article

people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one

Charles Epstein (geneticist) (599 words) [view diff] exact match in snippet view article

WE, Hecht F, Motulsky AG (1968). "Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears". The Journal of Pediatrics

Neurolathyrism (1,396 words) [view diff] exact match in snippet view article find links to article

(BAPN), and characterized by hernias, aortic dissection, exostoses, and kyphoscoliosis and other skeletal deformities, apparently as the result of defective

T44 (classification) (4,401 words) [view diff] exact match in snippet view article

people with contracture of the hip or knee, paresis of one arm, or kyphoscoliosis. In practice, this means they have limited function in at least one

List of diseases (M) (2,469 words) [view diff] exact match in snippet view article

syndrome Microcephaly autosomal dominant Microcephaly brachydactyly kyphoscoliosis Microcephaly brain defect spasticity hypernatremia Microcephaly cardiac

Sleep apnea (9,417 words) [view diff] exact match in snippet view article find links to article

breathe encompasses a broad set of diseases from strokes to severe kyphoscoliosis. OSA is a serious medical condition with systemic effects; patients

Wheelchair sport classification (4,365 words) [view diff] exact match in snippet view article find links to article

disabilities excluding OI, having brittle bone disease, or having severe kyphoscoliosis with poor sitting balance. After this, functional classification takes

Fryns-Aftimos syndrome (1,341 words) [view diff] exact match in snippet view article find links to article

deficiency other brain anomalies drug-resistant movement limitations kyphoscoliosis "BWS is a genetically heterogeneous disorder, caused by a heterozygous

Mega2, the Manipulation Environment for Genetic Analysis (2,421 words) [view diff] exact match in snippet view article find links to article

in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss". Am J Hum Genet. 90 (2): 201–216. doi:10