greenberg-rimoin skeletal dysplasia
description
greenberg-rimoin skeletal dysplasia is a rare lethal short-limbed skeletal dysplasia first described in 1988. it has been given the acronym hem (hydrops-ectopic calcification -moth eaten skeletal dysplasia). all the cases reported have been to consanguinous parents, suggesting autosomal recessive inheritance. the reported cases have occurred in different ethnic groups and have shown marked variation both between and within the families.
diagnosis
fetal skeletal surveys show deficient ossification of the skull as well as severe midface hypoplasia and micrognathia. abnormal cricoid and tracheal calcification may be seen. there is platyspondyly with multiple extra vertebral body ossification centers and the chest is described as barrel-shaped with an abnormal number (11) of shortened ribs.
differential diagnosis
achondroplasia may have associated cystic hygroma achondrogenesis type ii may also have cystic hygroma
sonographic features
fetal hydrops – may be as early as 17 weeks
rhizomelic and mesomelic shortening of upper and lower limbs
platyspondyly
abnormal number of ribs
shortened ribs
brachydactyly
cystic hygroma
postaxial polydactyly
micromelia
associated syndromes
references
1. chitayat d, gruber h, mullen bj, et al hydrops-ectopic calcification-moth eaten skeletal dysplasia (greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder am j med genet 47:272-277
2. greenberg cr, rimoin dl, gruber he, et al a new autosomal recessive lethal chondrodystrophy with congenital hydrops am j med genet 29:623-632