[Campomelic syndrome (author's transl)]

Area of Science:

• Pediatrics
• Medical Genetics
• Clinical Case Reports

Context:

• Campomelic syndrome is a rare congenital disorder with significant skeletal and other anomalies.
• This case represents the first documented instance of campomelic syndrome in Iran.
• Understanding the inheritance patterns of rare genetic disorders is crucial for genetic counseling and diagnosis.

Purpose:

• To present a detailed clinical, radiological, and autopsy description of a female infant with campomelic syndrome.
• To discuss the potential mode of inheritance, specifically autosomal recessive, based on familial occurrence data and absence of teratogenic factors.
• To contribute to the global understanding and documentation of campomelic syndrome.

Summary:

• A premature female infant presented with dwarfism, characteristic facial features, cleft palate, bone anomalies (bowing of lower extremities, pretibial dimpling), hypotonia, and respiratory distress, consistent with campomelic syndrome.
• Radiological and autopsy findings were meticulously documented.
• The absence of known teratogenic exposures and evidence of familial occurrence suggest a potential autosomal recessive inheritance for this specific case.

Impact:

• Adds valuable data to the limited literature on campomelic syndrome, particularly from the Middle East.
• Highlights the importance of comprehensive evaluation in diagnosing rare genetic syndromes.
• May inform future genetic research and diagnostic approaches for campomelic syndrome and similar skeletal dysplasias.