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Roentgenologic features of the Meckel syndrome
Abstract:
The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs. Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.
Insights
Meckel syndrome, a lethal genetic disorder, causes severe congenital malformations including kidney dysplasia, microcephaly with encephalocele, and polydactyly. This study details skeletal findings in six new cases, highlighting consistent features across affected infants.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Meckel syndrome is a rare, autosomal recessive, lethal congenital disorder.
- Key features include multicystic dysplastic kidneys, microcephaly with occipital encephalocele, and polydactyly.
Purpose of the Study:
- To describe six new cases of Meckel syndrome.
- To specifically document and analyze skeletal abnormalities using postmortem total body radiographs.
Main Methods:
- Case series description.
- Postmortem total body radiography for skeletal analysis.
Main Results:
- Six new cases of Meckel syndrome were identified and analyzed.
- Consistent skeletal findings included microcephaly with occipital bone defects, encephalocele or hydrocephaly, short upper extremities, bell-shaped thorax with abdominal distension, and postaxial polydactyly.
Conclusions:
- The study confirms and elaborates on the characteristic skeletal manifestations of Meckel syndrome.
- Detailed radiographic analysis aids in understanding the full spectrum of malformations in this lethal syndrome.