Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II
Joint Authors
Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 4 (31 Oct. 2017), pp.397-401, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-10-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.-
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. 2017. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 4, pp.397-401.
https://search.emarefa.net/detail/BIM-760309
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 4 (Oct. 2017), pp.397-401.
https://search.emarefa.net/detail/BIM-760309
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 4, pp.397-401.
https://search.emarefa.net/detail/BIM-760309
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 401
Record ID
BIM-760309