Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.
We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. The brother also had Duane syndrome type II and an ectopic right ureter. The coexistence of these multiple physical and brain abnormalities in a brother and sister suggests a new autosomal recessive syndrome with a slowly progressive course.
Jonas
R E
RE
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield 62794-9230, USA.
Kimonis
V E
VE
Morales
A
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009417:Nerve Tissue / Q000473:pathology; D009679:Nuclear Family; D011149:Pons / Q000002:abnormalities / Q000473:pathology*; D013577:Syndrome