title: Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.
abstract: Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT-I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT-I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia.
authors.affiliation: Department of Pediatrics/Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City.
authors.forename: M T
authors.initials: MT
authors.lastname: Greally
authors.forename: T
authors.initials: T
authors.lastname: Jewett
authors.forename: W L
authors.initials: WL
authors.lastname: Smith
authors.forename: G D
authors.initials: GD
authors.lastname: Penick
authors.forename: R A
authors.initials: RA
authors.lastname: Williamson
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011629:Puberty, Precocious / Q000235:genetics; D016216:Ultrasonography, Prenatal