Goldston syndrome: report of a case.
Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the second reported patient diagnosed prenatally.
Gulcan
Y H
YH
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye.
Duman
N
N
Kumral
A
A
Sağol
Lebe
B
B
Kavukçu
S
S
Erçal
D
D
Celiloğlu
M
M
Ozkan
H
H
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008103:Liver Cirrhosis / Q000151:congenital; D008168:Lung / Q000002:abnormalities; D008297:Male; D009421:Nervous System Malformations / Q000473:pathology; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography