cutis laxa/asthenia

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High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

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OBJECTIVE Several types of inborn errors of the O-glycan biosynthesis are known, leading to clinically very distinct phenotypes. Children with O-mannosyl glycan biosynthesis defects commonly present as a severe form of congenital muscular dystrophy with decreased alpha-dystroglycan staining,

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

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Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24

Heritable equine regional dermal asthenia.

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Hereditary equine regional dermal asthenia is a form of Ehlers-Danlos syndrome, and has an autosomal recessive mode of inheritance. Affected horses are typically born normal and develop lesions within the first 2 years of life. The most common symptoms of the disease include stretchy, loose skin

A case of Costello with parathyroid adenoma and hyperprolactinemia.

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A 23-year-old female with Costello syndrome is presented. She had mental retardation, macrocephalia, "coarse" facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome,

Williams syndrome and related disorders.

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Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic deletions of ELN resulting in loss

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.

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Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive

[A new concept of the pathogenesis of medial dysplasia (author's transl)].

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A unifying concept may be set out briefly in the following manner: injurious agents (such as abnormal hemodynamic and/or metabolic conditions--"risk factors for the vessel wall") leads to the transformation of contractile (k) smooth muscle cells into the metabolically more active or "modified" (m)

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