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[Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family]
Insights
This study reports a rare polymalformative syndrome in three siblings, characterized by severe cardiac defects and limb abnormalities. Genetic determination is suspected due to the pattern of inheritance.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Clinical Dysmorphology
Background:
- Polymalformative syndromes can present with complex congenital anomalies.
- Cardiac abnormalities are common in genetic disorders.
- Early identification of familial syndromes is crucial for genetic counseling.
Observation:
- Three successive children in a family presented with a fatal polymalformative syndrome.
- Affected infants exhibited distinct cardiac malformations, including septal defects and single ventricles.
- Consistent features included low ear insertion and polysyndactyly of the first toe.
Findings:
- A pattern of severe congenital anomalies was observed across three siblings.
- The syndrome involved significant cardiac malformations and limb abnormalities.
- Absence of consanguinity and prior family history suggests a potential new genetic mutation or a complex inheritance pattern.
Implications:
- This case highlights a potentially novel genetic syndrome with high mortality.
- Understanding the genetic basis is essential for accurate diagnosis and family risk assessment.
- Further research into the etiology of this polymalformative syndrome is warranted.
Abstract:
This study deals with a family where three successive children presenting with a complicated polymalformative syndrome, died. The first child, a boy, had atrial and ventricular septal defect. The second and third children, both females, had cardiac abnormalities with a single ventricle with common auriculo-ventricular valve. Each case was associated with low ear insertion and first toe bilateral polysyndactyly. Familial inquiry showed neither consanguinity nor similar cases in relatives and ancestors within three generations. This polymalformative syndrome could be genetically determined.