OBGY Radiology


Case 16
Antenatal scan.
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Imaging Findings


Fetus showed the following features -
Hydrocephalus (with 4th Ventricular dilatation)
Posterior encephalocele, Meningocele
Anophthalmia
Polydactyly ( post-axial )
Renal cysts ( Enlarged Kidneys )
Small Fetal.Stomach
Hydramnios, and poor fetal.Movements

Diagnosis

Meckel Gruber Syndrome

Discussion:

Points to note about this syndrome:

Autosomal Recessive

Features include Hydrocephalus, Microcephaly, Posterior Encephalocele, Micro / Anophthalmia, Cleft lip / palate, Polysplenia, Hepatic fibrosis / cysts and Renal cysts, Postaxial polydactyly, Ambiguous Genitalia, Cong. Heartt. Defects
Most consistent features - Renal , Hepatic cysts, Preaxial polydactyly, bowing of long bones can occur.

Syndrome has been mapped to 17q , 21q-24q, there may be clinical / genetic heterogenicity

Dr Latha Natrajan