Abstract
Meckel syndrome is a rare lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. 34 years old, neither diabetic nor hypertensive, she is gravida III, para I, came for first ultrasound scan with amenorrhea for four months. The ultrasound scan shows single viable fetus, gestational age was 19 weeks + 5 days, with enlarged highly echogenic kidneys.
Highlights
Meckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber. [1,2,3] The first reports of Meckel-Gruber syndrome (MKS) were published in 1822 by Johann Friedrich Meckel
Meckel-Gruber syndrome (OMIM 24900) is a lethal, rare, autosomal recessive condition mapped to 6 different loci in chromosomes 17q21-24 (MKS1), 11q13 (MKS2), 8q21.3-q22.1 (MKS3), [4,5] 12q21.31-q21.33 (MKS4), [6] 16q12.2 (MKS5), [7] and 4p15.3 (MKS6) [8]
Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases
Summary
Meckel syndrome ( known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel-Gruber syndrome (OMIM 24900) is a lethal, rare, autosomal recessive condition mapped to 6 different loci in chromosomes 17q21-24 (MKS1), 11q13 (MKS2), 8q21.3-q22.1 (MKS3), [4,5] 12q21.31-q21.33 (MKS4), [6] 16q12.2 (MKS5), [7] and 4p15.3 (MKS6) [8]. This mapping suggests genetic heterogeneity in Meckel-Gruber syndrome. Improvements in ultrasonography have enabled prenatal diagnosis as early as 10 weeks' gestation [8]
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