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[Meckel syndrome. Update on a recurrent case]
P Calmelet1, X Feidt, B Viville
1Clinique gynécologique et Obstétricale, Hôpital Civil, Strasbourg.
Abstract:
Meckel's syndrome is an autosomal recessive disorder classically defined by occipital encephalocele, multicystic kidneys and polydactyly. However, a very wide phenotypic spectrum is characteristic of Meckel's syndrome. The prenatal diagnosis of this lethal syndrome is approached with ultrasound examination. The karyotype has to be done in order to make the differential diagnosis, especially with Trisomy 13 or 18. The rate of the Meckel's syndrome's gene is 1/400. The isolation of the specific gene will be soon helpful to define the Meckel's syndrome precisely.
Insights
Meckel's syndrome, a lethal genetic disorder, presents with diverse symptoms like brain and kidney abnormalities. Prenatal diagnosis relies on ultrasound and karyotyping to differentiate it from other conditions.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Diagnosis
Background:
- Meckel's syndrome is an autosomal recessive disorder.
- It is characterized by a wide phenotypic spectrum, classically including occipital encephalocele, multicystic kidneys, and polydactyly.