Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst
Joint Authors
Abu Layla, Reda A.
al-Sawan, Rima M.
al-Rifai, Muhammad T.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 13, Issue 3 (31 Dec. 2012), pp.363-365, 3 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2012-12-31
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Topics
Abstract EN
We are reporting a very rare case of primordial dwarfism associated with lissencephaly and brain cyst, in a full term (37 weeks) girl, who had extreme low birth weight (580 g), delivered vaginally with good APGAR score (6 and 7) at 1 and 5 min, respectively.
The mother was healthy, para 0 + 1, 20 years old, had previous abortion and had no risk factors for severe intra uterine growth retardation (IUGR).
Parents were non consanguineous.
Although the baby had extreme low birth nweight (ELBW) she did not need any ventilator support till discharge from the hospital and was discharged home sucking well with weight on discharge 1.2 kg.
The baby had typical features of primordial dwarfism MOPD type I and to our knowledge this is the first time to report such a rare case from Kuwait.
Also the patient had lissencephaly and brain cyst which were not reported previously.
American Psychological Association (APA)
Abu Layla, Reda A.& al-Sawan, Rima M.& al-Rifai, Muhammad T.. 2012. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst. The Egyptian Journal of Medical Human Genetics،Vol. 13, no. 3, pp.363-365.
https://search.emarefa.net/detail/BIM-313060
Modern Language Association (MLA)
Abu Layla, Reda A.…[et al.]. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst. The Egyptian Journal of Medical Human Genetics Vol. 13, no. 3 (2012), pp.363-365.
https://search.emarefa.net/detail/BIM-313060
American Medical Association (AMA)
Abu Layla, Reda A.& al-Sawan, Rima M.& al-Rifai, Muhammad T.. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst. The Egyptian Journal of Medical Human Genetics. 2012. Vol. 13, no. 3, pp.363-365.
https://search.emarefa.net/detail/BIM-313060
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 365
Record ID
BIM-313060