Porencephaly is characterized by cavities in the brain. Those cavities may communicate with the ventricular systemor cause indentations in the brain surface. Acquired and inherited forms can be distinguished.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
De Lonlay P et al. (2001) Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
None (1946) Facial characteristics of infants with bilateral renal agenesis.
Sanna-Cherchi S et al. (2012) Copy-number disorders are a common cause of congenital kidney malformations.
Bankier A et al. (1988) Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution.
Morse RP et al. (1987) Bilateral renal agenesis in three consecutive siblings.
Bankier A et al. (1985) A pedigree study of perinatally lethal renal disease.
Wilson RD et al. (1985) Renal agenesis in British Columbia.
Cain DR et al. (1974) Familial renal agenesis and total dysplasia.
Carter CO et al. (1979) A family study of renal agenesis.
Kohn G et al. (1973) The association of bilateral and unilateral renal aplasia in the same family.
Hack M et al. (1974) Familial aggregation in bilateral renal agenesis.
Rizza JM et al. (1971) Bilateral renal agenesis in two female siblings.
Winter JS et al. (1968) A familial syndrome of renal, genital, and middle ear anomalies.
Yates JR et al. (1984) Concordant monozygotic twins with bilateral renal agenesis.
Roodhooft AM et al. (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys.
Monn E et al. (1984) Hereditary renal adysplasia.