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900 Possible Causes for Dysmorphic Face

  • Klinefelter Syndrome

    Non-traumatic separate simultaneous intracerebral haemorrhages (SSIHs) are rare. Relevant aetiologies are diverse and their diagnosis challenging. We report a unique case of SSIH in an 18-year-old male with a background of previously undiagnosed testicular choriocarcinoma and Klinefelter syndrome. The patient was[…][]

  • Marfan Syndrome

    References 1 McKusick, V. A. Heritable Disorders of Connective Tissue 1st edn (Mosby, St Louis, 1956). 2 Lee, B. et al. Nature 352, 330–334 (1991). 3 Maslen, C. L., Corson, G. M., Maddox, B. K., Glanville, R. W. & Sakai, L. Y. Nature 352, 334–337 (1991). 4 Dietz, H. C. et al. Nature 352, 337–339 (1991). 5 McKusick, V. A.[…][]

  • Patau Syndrome

    Da Wikimedia Commons, l'archivio di file multimediali liberi Jump to navigation Jump to search sindrome di Patau malattia genetica umana Carica un file multimediale Wikipedia Istanza di malattia Sottoclasse di chromosomal disease, Trisomia Prende il nome da Klaus Patau Controllo di autorità Q284219 Reasonator Scholia[…][]

  • Growth Hormone Deficiency

    Glucose transporter 1 deficiency syndrome (GLUT1DS) is an autosomal dominant disorder of brain energy metabolism caused by impaired GLUT1-mediated glucose transport across the blood-brain barrier. Although the clinical spectrum of this disorder is expanding rapidly, the growth patterns and endocrine status of[…][]

  • Osteogenesis Imperfecta

    Subtle dysmorphism, log face with prominent mandible and large ears, macroorchidism in postpubertal males, behavioral abnormalities, due to lack of FMR1 in areas such as the[]

  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[]

  • Mucopolysaccharidosis

    MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different[…][]

  • Congenital Muscular Dystrophy

    In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[] Other common features include hydrocephalus and dysmorphic face (short nasal bridge, micrognathia, and midface hypoplasia) 184.[] A few years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia[]

  • Pierre Robin Syndrome

    Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[]

  • Skeletal Dysplasia

    Abstract We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects,[…][]

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