Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.
We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommon combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro-reno-digital syndromes.
Genuardi
M
M
Istituto di Genetica Medica, Università Cattolica del S. Cuore, Rome, Italy.
Dionisi-Vici
C
C
Sabetta
G
G
Mignozzi
M
M
Rizzoni
G
G
Cotugno
G
G
Martini Neri
M E
ME
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities; D003616:Dandy-Walker Syndrome / Q000235:genetics; D005532:Foot Deformities, Congenital; D014644:Genetic Variation; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000151:congenital; D008297:Male; D007690:Polycystic Kidney Diseases / Q000151:congenital*; D015211:Zellweger Syndrome / Q000235:genetics