Campomelic dysplasia: an overview of a rare genetic disorder

N. Antonakopoulos, D. Vrachnis, N. Loukas, Ch. Christodoulaki, Z. Iliodromiti, N. Vrachnis

 

 

Campomelic dysplasia is a rare and severe genetic condition that is characterized by shortening and bowing of the long bones, abnormal face, multiple congenital anomalies, and ambiguous genitalia. Having conducted a review of the existing literature on this rare genetic disorder, we herein present the most pertinent and essential data on the condition viewed from the clinical perspective. In the majority of cases when the neonate survives the condition, since the underlying cause…

Posted in 2019 Volume 18 – Issue 3 Tagged , , ,