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Two sisters with Toriello-Carey syndrome
Y Chinen1, T Tohma, Y Izumikawa
1Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
American Journal of Medical Genetics
|November 24, 1999
Summary
Toriello-Carey syndrome, a rare genetic disorder, presents severe symptoms in affected individuals. This study suggests a potential autosomal recessive inheritance pattern for this condition.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Toriello-Carey syndrome is a rare genetic disorder characterized by a specific set of congenital anomalies.
- Previous reports have primarily focused on male cases, with limited information on female phenotypes.
Observation:
- This report details two Japanese sisters exhibiting severe phenotypes of Toriello-Carey syndrome, comparable to previously documented male cases.
- The observed phenotypes included agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal nasal structure, Robin sequence, dysmorphic ears, cardiac defects, and hypotonia.
- The younger sister experienced sudden death at four months of age.
Findings:
- The severe presentation in both sisters, particularly the affected females, expands the known clinical spectrum of Toriello-Carey syndrome.
- The potential for parental consanguinity in this family raises suspicion for a specific mode of inheritance.
Implications:
- The findings suggest that Toriello-Carey syndrome may follow an autosomal recessive inheritance pattern, necessitating genetic counseling for affected families.
- Further research is warranted to confirm the inheritance pattern and identify the underlying genetic mutations.
- This study highlights the importance of recognizing severe phenotypes in females and considering genetic factors in cases of unexplained infant mortality.