title: Campomelic dysplasia without overt campomelia.
abstract: We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a diagnostic significant sign.
authors.affiliation: Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
authors.forename: E
authors.initials: E
authors.lastname: Schaefer
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
mesh_terms: D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography