Two sisters with Toriello-Carey syndrome

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.