Miller-Dieker syndrome with ring chromosome 17.
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.
Sharief
N
N
Department of Child Health, Queen Elizabeth Hospital for Children, London.
Craze
J
J
Summers
D
D
Butler
L
L
Wood
C B
CB
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002658:Developmental Disabilities / Q000209:etiology; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012303:Ring Chromosomes; D013577:Syndrome; D014057:Tomography, X-Ray Computed