Campomelic dysplasia without overt campomelia.
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.
Friedrich
U
U
Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
Schaefer
E
E
Meinecke
P
P
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