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    Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

    Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy...

    Heidi Schaballie, Marleen Renard, Christiane Vermylen… in European Journal of Pediatrics (2013)

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    Article

    Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

    We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and ...

    Lieve Sevenants, Carine Wouters… in European Journal of Pediatrics (2005)