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Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
  1. W Courtens1,
  2. A-B Johansson2,
  3. B Dachy3,
  4. F Avni4,
  5. N Telerman-Toppet3,
  6. H Scheffer5
  1. 1Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium
  2. 2Department of Neonatology, Children's University Hospital Queen Fabiola, Brussels, Belgium
  3. 3Department of Neurology, University Hospital Brugmann, Brussels, Belgium
  4. 4Department of Paediatric Radiology, Children's University Hospital Queen Fabiola, Brussels, Belgium
  5. 5Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
  1. Correspondence to:
 Dr W Courtens, Pilatusveld 9, 1840 Londerzeel, Belgium;

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We read with great interest the article published in this journal in 1991 by Borochowitz et al,1 describing a new lethal syndrome consisting of infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in two sibs. Recently, another infant with a form of SMA and congenital fractures was reported by Kelly et al,2 thus validating the suggestion of a distinct and rare form of SMA associated with congenital bone fractures. Autosomal recessive inheritance was suggested in the original report,1 but no history of consanguinity was noted in the second.2 X linked inheritance could, however, not be excluded since these three affected infants were male. Greenberg et al3 reported four cases with infantile SMA, neonatal death, congenital joint contractures, and the presence of bone fractures in three of the four cases; these cases seem clinically to be similar to the originally reported cases,1 but the pedigree in this report was consistent with X linked recessive inheritance and the gene in this family was mapped to Xp11.3-q11.2.4

Here, we report on a female neonate with a severe, acute, lethal form of SMA and congenital bone fractures, thus excluding X linked inheritance. Furthermore, since this girl was born to first cousin parents, this suggests autosomal recessive inheritance in this rare variant of SMA type 1 with congenital fractures.


The girl was born to a 35 year old, G5 P5 mother and a 41 year old father. The parents, of Moroccan origin, were consanguineous, as were the maternal grandparents. They had one healthy son and two healthy daughters, and another son who had died at the age of 3 months in Morocco. The pregnancy was not medically followed but reported by the mother as uneventful. Delivery, recorded as normal by both gynaecologist and mother, …

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