Severe spinal muscular atrophy variant associated with congenital bone fractures.
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.
Felderhoff-Mueser
Ursula
U
Department of Neonatology, Humboldt University, Berlin, Germany. ursula.felderhoff@charite.de
Grohmann
Katja
K
Harder
Anja
A
Stadelmann
Christine
C
Zerres
Klaus
K
Bührer
Christoph
C
Obladen
Michael
M
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
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