this syndrome is almost always fatal at birth either because of pulmonary hypoplasia or neonatal renal failure . Diagnosis?
Re: Syndromes Meckel–Gruber syndrome - this is a ciliopathy and all the seemingly unconnected pathology stems from there. Cilia are very imp. in developing human and animal embryos...they r imp. in migration of not just cells ( at a microscopic scale ) but also, organs / organ systems ( at a macroscopic scale ), closure of various body cavities ex. neuropre, ant. body wall etc. and also in apoptosis ( so that we don't have duplication of tissue ) some examples of ciliopathies will help understand the problem 1) kartagener syndrome ( situs inversus + ....... ) --> migration problem 2) Bradet-beidel syndrome ( polydactyly + .... ) ---> apoptosis problem 3) polycystic kidneys --> migration problem ( ureteric bud fails to meet metanephric blastema ) what we see in the constellation of seemingly uncnnected findings in 'Meckel–Gruber syndrome' r in fact connected to each other. a) & c) have a potter-like facies sec to oligohydroamnios b) shows a large occipital encephalocele d) & e) shows postaxial polydactyly f) fetal ultrasound showing encephalocele g) fetal us, possibly showing polycystic kidneys
Correct answer :Meckel-Gruber syndrome (MGS) Meckel-Gruber syndrome is classically characterised by the triad of: renal cystic dysplasia (multiple renal cysts) (present most cases) occipital encephalocoele / holoprosencephaly (~ 70%) post-axial polydactyly (usually hexadactyly) (~ 65%)
