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[Meckel syndrome. Update on a recurrent case]
P Calmelet1, X Feidt, B Viville
1Clinique gynécologique et Obstétricale, Hôpital Civil, Strasbourg.
Summary
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.