Antenatal Ultrasonic Diagnosis of Meckel Gruber Syndrome (A Case Report with Review of Literature)

Abstract

Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.

Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation

“…The ultrasonographic features in the late first and early second trimester consistent with the diagnosis include [21][22][23][24][25] the following:…”

Meckel Gruber syndrome associated with anencephaly—an unusual reported case

“…Therefore, the prenatal ultrasonography detection of MGS is important for the diagnosis, which can be confirmed later by genetic analysis and careful post-mortem examination to establish the diagnosis. Clinical diagnosis is suggested on the basis of the presence of classical clinical features and when the syndrome recurs in subsequent pregnancies [ 2 , 9 ].…”

“…MGS is a fatal disorder resulting in intrauterine or early neonatal death, thus prenatal diagnosis is important for the counselling of the parents regarding the poor foetal prognosis and to explain the chances of recurrence in subsequent pregnancies [ 2 ].…”

“…Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. It is a congenital autosomal recessive condition and carries a 25% risk of recurrence in each pregnancy [ 1 , 2 ].…”

Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation

“…Meckel-Gruber syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, bilateral polycystic, dysplastic kidneys and post-axial polydactyly 1,2 .…”