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.
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 1993|
- Joubert syndrome
- Meckel syndrome
- renal-hepatic-pancreatic dysplasia
ASJC Scopus subject areas