NEW CASE OF CONRADI HUNERMANN SYNDROME IN A NEWBORN MALE.
- Radiology Department, Children?s Hospital, Mohamed V University, Rabat, Morocco.
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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.
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[Kaoutar Imrani, Othman Ayouche and Rachida Dafiri. (2018); NEW CASE OF CONRADI HUNERMANN SYNDROME IN A NEWBORN MALE. Int. J. of Adv. Res. 6 (Jul). 372-375] (ISSN 2320-5407). www.journalijar.com
Radiology Department, Children’s Hospital, Mohamed V University, Rabat, Morocco,
