• infantile spinal muscular atrophy
• congenital fractures
• autosomal recessive inheritance

• SMA, spinal muscular atrophy

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.