Brain Malformations With or Without Urinary Tract Defects
Autoszomális domináns
This condition results from loss of one working copy of NFIA. It is caused either by small changes in NFIA or by deletions at chromosome 1p31 that remove the gene; many arise de novo, but inherited cases are reported.
Tünetek és jelek
An absent or underdeveloped corpus callosum, enlarged ventricles and a large head are the most typical findings, often with low muscle tone and developmental delay. Intellectual disability is also reported. Urinary tract differences such as vesicoureteral reflux or hydronephrosis, and seizures, can also occur.
Mit változtat a diagnózis
Management includes neurological and urological follow-up, treatment of seizures and urinary problems, and developmental support. Many cases arise de novo, but a parent can carry the change, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
