6533b828fe1ef96bd1288e13
RESEARCH PRODUCT
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Michael NorkL.i. Al-gazaliE. VaradyL. SztrihaHans H. Goebelsubject
Pathologymedicine.medical_specialtyMicrocephalyLissencephalyChromosome DisordersGenes RecessiveCentral nervous system diseaseConsanguinityHypokinesiaBiopsymedicineHumansMuscle SkeletalMyelin SheathArthrogryposisArthrogryposisChromosome AberrationsMuscle biopsymedicine.diagnostic_testbusiness.industryInfant NewbornBrainInfantGeneral MedicineAnatomySyndromemedicine.diseaseMagnetic Resonance ImagingMicrencephalyPedigreeSpinal CordPediatrics Perinatology and Child HealthMicrocephalyFemaleNeurology (clinical)medicine.symptombusinessFollow-Up Studiesdescription
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1999-09-10 | Neuropediatrics |