title: Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
abstract: We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation. We describe the radiologic and pathologic manifestations in these two cases. This recurrence affecting a male and a female fetus, born to the same couple, suggests autosomal recessive inheritance.
authors.affiliation: Department of Radiology, Hôpital Bichat, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Loshkajian
authors.forename: J
authors.initials: J
authors.lastname: Roume
authors.forename: V
authors.initials: V
authors.lastname: Stanescu
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: F
authors.initials: F
authors.lastname: Stampf
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D000328:Adult; D001846:Bone Development; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome