title: Pacman dysplasia: report of two affected sibs.
abstract: We report on two sib fetuses with radiological and morphological findings similar to those of the recently described lethal skeletal dysplasia termed Pacman dysplasia (McKusick, 167220, Am J Med Genet 1993, 45:558-561). The first fetus, a male, was electively terminated after a routine ultrasound study at 20 weeks showed short-limb dwarfism. The second fetus, a female sib, was also electively terminated after similar, abnormal ultrasound findings were noted at 16 weeks of gestation. Similar to Pacman dysplasia, the radiographic appearance was characterized by under-mineralized bone, stippling, rhizomelic and mesomelic shortness, platyspondyly, and a short, broad pelvis. The metaphyses were dense, but the diaphyseal cortices were thin with undermodeled long bones, and there was a deficient trabecular pattern suggesting marrow replacement. Chondro-osseous structure was characterized by deficient trabecular bone formation, a fibrous marrow, and numerous, large, multinucleated osteoclasts lining the endosteal surfaces of the metaphyseal bone. The occurrence of this dysplasia in sibs of differing sex suggests autosomal recessive inheritance.
authors.affiliation: Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA. wwilcox@mailgate.csmc.edu
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: B C
authors.initials: BC
authors.lastname: Lucas
authors.forename: B
authors.initials: B
authors.lastname: Loebel
authors.forename: R P
authors.initials: RP
authors.lastname: Bachman
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
mesh_terms: D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010010:Osteoclasts / Q000473:pathology; D011859:Radiography