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Summary
CHILD SYNDROME
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
308050
OMIM = Online Medalian Inheritance of Men
139
Xp28
rare (<60 cases)
X-linked dominant
mutation in the gene encoding NSDHL
symptoms
alopecia
congenital heart defect
contractures, joints
hearing defect, deafness
hemidysplasia
hernia
hydronephrosis
ichthyosiform nevi
ichthyosis
limb abnormalities, limb deformities
lung hypoplasia
mental retardation
punctate calcifications
laboratory finding
8-Dehydrocholesterol increasedplasma
8(9)-cholestenol increasedplasma
Literature
Sidden CRet al.A case of chondrodysplasia punctata with features of osteogenesis imperfecta type IIJ Ultrasound Med206699-7032001
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Malou Eet al.X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biologyArch Pediatr82176-1802001
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Striz ITrebichavsky ICalprotectin - a pleiotropic molecule in acute and chronic inflammationPhysiol Res533245-2532004