Meckel-Gruber syndrome

Autosomal recessive Meckel-Gruber syndrome, orofacial-digital syndrome, Zellweger syndrome, short limb-polydactyly syndrome, Jeune syndrome... 

Polycystic kidney diseases can also be detected in utero. In the typical presentation of the recessive type, the kidneys are very large (4-4 - -F8 SD) with increased echogenicity and lack of cortico-medul-lary differentiation more unusual presentations include the presence of medullary cysts or reversed cortico-medullary differentiation (Fig. 13.15) oligohydramnios and lung hypoplasia indicate a poor prognosis. In the dominant type, the renal cortex appears hyperechoic, increasing the cortico-medul-lay differentiation. Cysts may be detected in utero. Other cystic diseases are usually related to syndromes (i.e., Meckel-Gruber syndrome and Bardet-Biedl syndrome) (Avni et al. 2006). 

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