NEW CASE OF CONRADI HUNERMANN SYNDROME IN A NEWBORN MALE

Chondrodysplasia punctata type 2, also known as Conradi-Hunermann-Happle syndrome, is a rare genetic disorder. This disorder is characterized by bone, skin and eye abnormalities.It occurs almost exclusively in females as it is usually lethal in males before birth. We report a new original observation of a newborn full term male, presenting a facial dysmorphism and skeletal abnormalities. X-rays showed bilateral symmetrical punctate calcifications of femoral, tibial, fibular and ankle epiphyses. The diagnosis of X-linked chondrodysplasia punctata type 2 (CDX2) has been suggested and confirmed by biochemical study and molecular analysis. This case is important as it is a milestone for further future research.