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Kprones DUB10016 dubowitz syndrome. Identity. Note, dubowitz syndrome may be confused with Bloomsyndrome; another differential diagnosis is fetal alcohol syndrome. http://www.infobiogen.fr/services/chromcancer/Kprones/DUB10016.html
Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Note Dubowitz syndrome may be confused with Bloom syndrome ; another differential diagnosis is fetal alcohol syndrome Inheritance autosomal recessive; heterogeneity cannot be excluded; less than 150 cases described Clinics Note phenotypic spectrum variable Phenotype and clinics growth: from normal to severe retardation; intrauterine growth retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age. head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism; blepharophimosis; microretrognathia. skin: eczema, a classical sign, may be absent. congenital heart defects in 10%; other malformations: ocular, dental, skeletal, urogenital in male patients; frequent infections. mental retardation in 30-70 % of cases (from normal in 30% to severe retardation in 10%); siezures in 10%high-pitched voice; behaviour problems in 40%; most patients are 'hyperactive, shy, like music'. Neoplastic risk haematological malignancies and pancytopenia in 10%
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Extractions: HOME D Ercole Syndrome (Short Stature with Microcephaly and Heart Defect) D-Glycerate Kinase Deficiency (D-Glycericacidemia; Hyperglycinemia Syndrome, Nonketotic) D-Glycericacidemia Da Silva Syndrome (Mental Retardation with Hypoplastic Corpus Callosum and Preauricular Tag) Dacryocystitis/Dacryostenosis (Blocked Tear Duct) Dandy Walker Malformation/Syndrome Danon Disease (Glycogen Storage Disease, Type IIB) Dappled Metaphysis Syndrome Darier (White) Disease (Keratosis Follicularis) Davidson's Disease De Barsy Syndrome (Cutis Laxa with Corneal Clouding and Mental Retardation; Progeroid Syndrome, De Barsy Type) Cutis laxa corneal clouding mental retardation CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION
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