BACKGROUND: Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive 
disorder that occurs in all races and ethnicities; it is characterized by 
central nervous system abnormalities, resulting in mental retardation, bilateral 
renal cystic dysplasia and malformations of hands and feet. To date there have 
been only about 200 cases reported worldwide. It is a disease with a recurrence 
rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The 
mortality rate is 100% and in view of the high index of recurrence, subsequent 
pregnancies should be investigated appropriately with genetic counseling.
CLINIC CASE: We present the case of a 15 years-old mother with 30.2 weeks 
pregnancy resulting from rape by consanguinity (grandfather), without prenatal 
care. On admission HD ultrasound study is performed finding fetus fetometria 
average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 
21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is 
observed winding mean; not cut down, cavum septum pellucidum or herniated sac 
cerebellum and occipital level (encephalocele) are evident. It starts cervical 
ripening with prostaglandins for 24 hours to conduct further labor with oxytocic 
and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy 
family is authorized; however, it not has done because it is legal and only 
medical geneticist obtains medical case assessment.
CONCLUSIONS: The Meckel-Gruber syndrome is a very rare condition that occurs in 
cases of consanguinity occasions. Mortality occurs in 100% of cases, so you 
should talk to parents and explain the best maternal prognosis, with abortion in 
the early stages and subsequent genetic counseling.