Campomelic dysplasia without overt campomelia
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U Friedrich1, E Schaefer, P Meinecke
1Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
Clinical Dysmorphology
|July 1, 1992
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.