Unusual association of cerebral and renal abnormalities.
A 37-week male infant is reported with microbrachycephaly, micrognathia, a cleft palate, a small tongue and a patent ductus arteriosus. Postmortem examination revealed micropolygyria, absence of the olfactory bulbs and tracts, absence of the corpus callosum, marked hydrocephalus and abnormal midbrain structures and basal ganglia. The cerebellum was very small with an absent vermis. There was widespread impacted PAS-positive secretion distending the distal tubules within the cortex of the kidney, with scattered microcyst formation and occasional partly sclerosed glomeruli.
Winter
R M
RM
Mothercare Department of Paediatric Genetics, Institute of Child Health, London.
Wigglesworth
J S
JS
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002972:Cleft Palate / Q000209:etiology; D004374:Ductus Arteriosus, Patent; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000473:pathology; D007569:Jaw Abnormalities / Q000473:pathology; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D007684:Kidney Tubules / Q000378:metabolism; D008297:Male; D008831:Microcephaly; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D014801:Vitamin A / Q000008:administration & dosage / Q000009:adverse effects
D014801:Vitamin A