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Microlissencephaly in Microcephalic Osteodysplastic Primordial Dwarfism: A Case Report and Review of the Literature
- Source :
- Neuropediatrics. 33:309-313
- Publication Year :
- 2003
- Publisher :
- Georg Thieme Verlag KG, 2003.
-
Abstract
- Microcephalic osteodysplastic primordial dwarfism (MOPD) is defined as a syndrome presenting with intrauterine and postnatal growth retardation, typical facial appearance, skeletal dysplasia and brain abnormalities. Autosomal-recessive inheritance is suspected. Sharing clinical manifestations, the former type III has been accepted to be the same entity as type I. We present the case of a male infant with MOPD I and micrencephaly with simplified gyral pattern to a degree defining it as microlissencephaly (MLIS). The brain abnormalities in MOPD I have not yet been classified. Reviewing the literature, we conclude that microlissencephaly appears to be the distinct developmental brain abnormality in MOPD I. Conversely, osteodysplastic changes have to be taken into consideration in the differential diagnosis of microlissencephaly. In addition, our patient suffered from acute lymphatic leukaemia which has not previously been described in association with MOPD I.
- Subjects :
- Male
medicine.medical_specialty
Pediatrics
Microcephaly
Developmental Disabilities
Medizin
Lissencephaly
Dwarfism
Genes, Recessive
Corpus Callosum
Central nervous system disease
medicine
Humans
Cerebral Cortex
Chromosome Aberrations
Neurologic Examination
Bone Diseases, Developmental
business.industry
Infant, Newborn
Infant
General Medicine
medicine.disease
Magnetic Resonance Imaging
Surgery
Micrencephaly
Seckel syndrome
Dysplasia
Child, Preschool
Pediatrics, Perinatology and Child Health
Neurology (clinical)
Agenesis of Corpus Callosum
Abnormality
Differential diagnosis
business
Follow-Up Studies
Subjects
Details
- ISSN :
- 14391899 and 0174304X
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- Neuropediatrics
- Accession number :
- edsair.doi.dedup.....40d1e068fbbed33bba69bbb93574da7c