Αναγραμματισμοί & Πληροφορίες σχετικά με | Αγγλικά λέξη CONGENITA

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Παραδείγματα χρήσης CONGENITA σε μια πρόταση

• Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy.
• Davis was born with spondyloepiphyseal dysplasia congenita, a rare bone growth disorder that results in dwarfism.
• Dyskeratosis congenita may be associated with leukoplakia of the oral mucosa and of the anal mucosa.
• Mutations in the gene encoding this protein lead to PC-K17 (previously known as Jackson-Lawler) type pachyonychia congenita and steatocystoma multiplex.
• Mutations in the gene encoding this protein are associated with the genetic skin disorders including pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.
• It is characterised by myotonia congenita, a hereditary condition that may cause it to stiffen or fall over when excited or startled.
• Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
• Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation).
• Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.
• Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement).
• The primary symptom of paramyotonia congenita is muscle contracture which develops during exercise or activity.
• Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype.
• Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type.
• Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia.
• Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
• Aplasia cutis congenita is a condition in which some or large portions of the skin is missing at birth.
• Mexiletine has been used to treat chronic pain and may also be used to treat muscle stiffness resulting from myotonic dystrophy (Steinert's disease) or nondystrophic myotonias such as myotonia congenita (Thomsen syndrome or Becker syndrome).
• It is the most common form of arthrogryposis multiplex congenita (AMC), where multiple joint contractures are present at birth.
• He investigated amyotonia congenita with James Stanfield Collier (1870–1935) (Brain, London, 1909, 32: 269–284) and described the first removal of a suprarenal tumour (by Percy Sargent) reversing virilism in the patient.
• Jadassohn–Lewandowsky syndrome: An ectodermal dysplasia characterized by onychogryposis, hyperkeratosis, leukoplakia, hyperhidrosis and pachyonychia congenita.

Η προετοιμασία της σελίδας πήρε: 155,30 ms.