title: Severe spinal muscular atrophy variant associated with congenital bone fractures.
abstract: Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.
authors.affiliation: Department of Neonatology, Humboldt University, Berlin, Germany. ursula.felderhoff@charite.de
authors.forename: Ursula
authors.initials: U
authors.lastname: Felderhoff-Mueser
authors.forename: Katja
authors.initials: K
authors.lastname: Grohmann
authors.forename: Anja
authors.initials: A
authors.lastname: Harder
authors.forename: Christine
authors.initials: C
authors.lastname: Stadelmann
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Christoph
authors.initials: C
authors.lastname: Bührer
authors.forename: Michael
authors.initials: M
authors.lastname: Obladen
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities; D002352:Carrier Proteins / Q000235:genetics; D017362:Cyclic AMP Response Element-Binding Protein; D004268:DNA-Binding Proteins; D017809:Fatal Outcome; D050723:Fractures, Bone / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D017362:Cyclic AMP Response Element-Binding Protein; D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014157:Transcription Factors