Stüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features

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dc.contributor.authorAl-Gazali L.I.
dc.contributor.authorRavenscroft A.
dc.contributor.authorFeng A.
dc.contributor.authorShubbar A.
dc.contributor.authorAl-Saggaf A.
dc.contributor.authorHaas D.
dc.date.accessioned2011-05-15T16:16:05Z
dc.date.available2011-05-15T16:16:05Z
dc.date.issued2003
dc.description.abstractWe report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al. [(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia. © 2003 Lippincott Williams & Wilkins.
dc.description.versionArticle
dc.identifier.citationClinical Dysmorphology
dc.identifier.citation12
dc.identifier.citation1
dc.identifier.issn09628827
dc.identifier.other10.1097/00019605-200301000-00001
dc.identifier.urihttp://hdl.handle.net/10019.1/13626
dc.subjectarticle
dc.subjectbone radiography
dc.subjectcase report
dc.subjectchild
dc.subjectdysautonomia
dc.subjectface dysmorphia
dc.subjectfemale
dc.subjecthuman
dc.subjecthyperthermia
dc.subjectlong bone
dc.subjectmale
dc.subjectnociception
dc.subjectpain threshold
dc.subjectphenotype
dc.subjectpriority journal
dc.subjectskeleton malformation
dc.subjectspine malformation
dc.subjectstuve weidemann syndrome
dc.subjectsurvival
dc.subjectthermoregulation
dc.subjectAbnormalities, Multiple
dc.subjectAge Factors
dc.subjectArabs
dc.subjectBone and Bones
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFacies
dc.subjectFemale
dc.subjectHumans
dc.subjectJoints
dc.subjectMale
dc.subjectPrognosis
dc.subjectTongue
dc.titleStüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features
dc.typeArticle
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