Severe polymalformative syndrome leading to death
within the newborn period and characterized by malformations of kidneys,
facial features, and multiple visceral and cerebral anomalies.
Renal Dysplasia with Hepatic Fibrosis and Dandy-Walker.
Two reported cases of premature
babies who died in the early neonatal period. Unknown mode of inheritance.
Characteristic cystic dysplastic kidneys.
Congenital hepatic fibrosis, Dandy-Walker malformation, and hydrocephalus
complete the syndrome. The fourth ventricle in both patients was cystic,
with dilated third and lateral ventricles. The vermis cerebelli was absent
in both patients. Dysmorphic facies, including low-set ears, flattened nose,
hypertelorism, and microphthalmos were present.
Both, dysplastic kidneys and fibrotic liver
most likely have impaired function. Kidney dysfunction may cause electrolyte
abnormalities, hyperor hypovolemia, and abnormal platelet function.
Liver dysfunction may cause abnormal glucose regulation, coagulation status,
ascites, and many other problems. Pharmacodynamics and pharmacokinetics of
anesthetic and other drugs will be affected. Hydrocephalus and raised
intracranial pressure may be present.
Goldston Syndrome: Characterized by a combination of central
nervous malformations (including Dandy-Walker malformation), renal
dysplasia, and hepatic and pancreatic malformation.
Meckel-Gruber Syndrome (MKS): Characterized by a combination of sloping
forehead, occipital encephalocele, Dandy-Walker
malformation, renal cysts, hepatic ductal dysplasia and cysts, polydactyly and polycystic
kidneys. Genetically transmitted as an autosomal recessive trait.
Kudo M, Tamura K, Fuse Y: Cystic dysplastic kidneys associated with
Dandy-Walker malformation and congenital hepatic fibrosis. Report of two
cases. Am J Clin Pathol