craniocarpotarsal dystrophy
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dystrophy — Progressive changes that may result from defective nutrition of a tissue or organ. SYN: dystrophia. [dys + G. trophe, nourishment] adiposogenital d. a disorder characterized primarily by obesity and hypogonadotrophic hypogonadism … Medical dictionary
Freeman–Sheldon syndrome — Freeman Sheldon syndrome Classification and external resources ICD 9 759.89 … Wikipedia
Freeman-Sheldon syndrome — Infobox Disease Name = Freeman Sheldon syndrome Caption = DiseasesDB = 31817 ICD10 = ICD9 = ICD9|759.89 ICDO = OMIM = 193700 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Freeman Sheldon syndrome (FSS), also termed distal arthrogryposis … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… … Medical dictionary
Freeman-Sheldon syndrome — an autosomal dominant syndrome caused by mutation in the MYH3 gene (locus: 17p13.1), which encodes a myosin heavy chain. It consists of characteristic flattened, masklike facies; microstomia, the lips protruding as in whistling; deep set eyes… … Medical dictionary
ФРИМЕНА – ШЕЛДОНА СИНДРОМ — (описан британскими врачами E. Freeman, 1900–1975, и J. Sheldon, 1920–1964; синонимы – краниокарпотарзальная дисплазия, «лицо свистящего человека») – наследственное заболевание: дефекты строения лица и скелетно мышечной системы. Характерны широко … Энциклопедический словарь по психологии и педагогике
