The Bowen‐Conradi syndrome—a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities

Abstract

This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.

Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

“…The facial profile of children with this condition is very similar to that in case 2 and cerebellar abnormalities consisting of partial agenesis and 'hypoplasia or atrophy' have been noted. 6 Although this condition is regarded as lethal, the degree of neurological dysfunction is not as severe as in the cases now reported with the most noticeable differences being the achievement of spontaneous respiration and rarity of convulsions in the neonatal period.…”

“…6 The major features are intrauterine growth retardation, microcephaly, micrognathia, contractures, rockerbottom feet, and death in early infancy. The facial profile of children with this condition is very similar to that in case 2 and cerebellar abnormalities consisting of partial agenesis and 'hypoplasia or atrophy' have been noted.…”

Clinical genetics and the Hutterite population: A review of Mendelian disorders

“…BCS is a common disorder in the Hutterite population, observed in all three leuts, and has an estimated birth prevalence of 1/355 live-births [Lowry et al, 2003]. BCS is a lethal autosomal recessive disorder first described in the Hutterite population in 1970s [Bowen and Conradi, 1976;Hunter et al, 1979]. The clinical findings in 39 patients were summarized by Lowry and colleagues in 2003.…”

The “Fifth” RNA Nucleotide: A Role for Ribosomal RNA Pseudouridylation in Control of Gene Expression at the Translational Level

“…A mutation in the NEP1 (Nucleolar Essential Protein 1, also known as EMG1 ) gene locus on chromosome 12p13 has been identi fi ed in Bowen-Conradi syndrome (BCS) (Armistead et al 2009 ) , a severe autosomal recessive developmental disorder (Hunter et al 1979 ) . In both yeast and human NEP1, a SPOUT-RNA methyltransferase is required for ribosome biogenesis and function (Eschrich et al 2002 ;Liu and Thiele 2001 ) .…”