A new autosomal recessive lethal chondrodystrophy with congenital hydrops.
Two sibs, the offspring of consanguineous parents, presented with severe short-limb dwarfism and distinct chondro-osseous, radiologic, and histologic appearance. The first sib presented at 30 wk with severe hydrops following fetal death; the second was detected by ultrasonography at 20 wk. Radiologic abnormalities included an unusual "moth-eaten" appearance of the markedly short long bones, bizzare ectopic ossification centers, and marked platyspondyly with unusual ossification centers. Marked extramedullary erythropoiesis was present in both fetuses, and chondro-osseous histology was characterized by marked disorganization of tissue with interspersed masses of cartilage, bone, and mesenchymal tissue. These sibs appear to have a distinct previously unreported autosomal recessive skeletal dysplasia, which can present as hydrops fetalis.
Greenberg
C R
CR
Department of Paediatrics and Child Health, Children's Hospital, Winnipeg, Manitoba, Canada.
Rimoin
D L
DL
Gruber
H E
HE
DeSa
D J
DJ
Reed
M
M
Lachman
R S
RS
D000328:Adult; D003241:Consanguinity; D004392:Dwarfism / Q000196:embryology / Q000235:genetics; D004487:Edema / Q000196:embryology*; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000196:embryology / Q000235:genetics*; D011247:Pregnancy