Renal tubular dysgenesis with microcephaly.
Renal tubular dysgenesis, a rare, lethal, autosomal recessive disorder, is characterized by short and poorly differentiated proximal convoluted tubules associated with oligohydramnios, Potter sequence, and neonatal death due to respiratory failure. Abnormalities of the skull may occur in some cases. We report an infant born of a consanguineous union who also had microcephaly, among other features. A history of oligohydramnios with or without skull abnormalities and a lethal outcome without obvious explanation should occasion renal histological study aimed at precise diagnosis and genetic counselling.
Milunsky
J M
JM
Center for Human Genetics, Boston University School of Medicine, MA 02118, USA.
Genest
D R
DR
Milunsky
A
A
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000002:abnormalities*; D008831:Microcephaly / Q000473:pathology*; D011247:Pregnancy