PROMOTING ACCESS TO AFRICAN RESEARCH

Egyptian Journal of Medical Human Genetics

Log in or Register to get access to full text downloads.

Remember me or Register



Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad

Abstract


We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II.




http://dx.doi.org/10.1016/j.ejmhg.2017.04.002
AJOL African Journals Online