Clinical and genetic heterogeneity in Meckel syndrome

Abstract

Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have previously shown a linkage to chromosome 17q in 17 Finnish Meckel families. In this study we have analysed one Italian, one Austrian (of Turkish origin) and three British MKS families (Caucasian, Pakistani, and Bangladeshi families) for linkage to the MKS locus on chromosome 17q22-q24. We did not observe co-segregation of the disease and marker haplotypes in the Austrian family or in the three British families, of which two represented classical MKS and one a slightly atypical MKS phenotype with longer survival of the patient. In the Italian family the affected and non-affected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. These results suggest locus heterogeneity in Meckel syndrome--a feature previously suspected based on the highly variable clinical phenotype.

Meckel-Gruber syndrome in Togo: Prenatal ultrasound and computer tomography diagnosis

“…It is characterized by classic triad of polycystic dysplastic kidneys, occipital encephalocele (or other anomalies of the central nervous system) and polydactyly [2]. All these three anomalies (triad) were found in our case.…”

“…The post-mortem assessment confirms the diagnosis, while genetic studies contribute to the evaluation of the recurrence risk [2,11].…”

“…It is a genetic disease, with autosomal recessive transmission, described for the first time in 1822 by Johan Friedrich Meckel [1]. It is characterized by the triad: encephalocele, cystic dysplasia of the kidneys and polydactyly [2]. MeckelGruber syndrome may also cause hepatic developmental defects, and pulmonary hypoplasia.…”

Meckel-Gruber Syndrome: Report of nine cases and a literature review

“…Tek gen hastalıkları grubunda otozomal resesif geçişli hastalıklar, akraba evliliğinin sıklığı nedeniyle, ülkemiz için ayrı bir sorun oluşturur. Tüm evliliklerin %22' sinin akrabalar arasında yapıldığı ülkemiz otozomal resesif hastalıklar için başlı başına bir risk faktörüdür [7,8] .Genetik hastalıklar yönünden akraba evliliğinin sefali, Dandy-Walker malformasyonu gibi major santral sinir sistemi malformasyonlarının yanı sıra çeşitli kardiyak anomaliler, diyafragma hernileri, omfalosel ve gastroşizis gibi abdominal defektler ile renal agenezis, polikistik/multikistik böbrek hastalıkları ve megasistis gibi üriner sistemin major anomalileri bulunur [11]. USG'de karakteristik gö-rüntüler gestasyonel yaşa bağımlıdır.…”

“…Bu sendromda iskelet anomalilerinden en sık görüleni ise polidaktilidir. Kısa ekstremite, sindaktili, klinodaktili ve simian çizgisi daha az bulunan anomalilerdir [4,11]. Bizim hastalarımızın %44,4'ünde extremite anomalileri izlendi.…”