Cranioectodermal dysplasia (CED) in sisters diagnosed with acute heart failure

Abstract

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disease characterized by craniofacial and skeletal abnormalities and chronic kidney diseases, mainly nephronophthisis. We report sisters with heterozygous mutations in their WDR35 gene that caused their CED. Case 1 is the elder sister, and case 2 is the younger sister. Both have undergone surgery for craniosynostosis. Case 1 went to the hospital because she was pale at 3 years of age and was admitted with acute heart and renal failure. Case 2 visited our department at 1 year and 9 months of age, just after her sister was admitted. Both renal pathologies showed nephronophthisis and kidney alternative therapies were started. We checked their past blood tests and found that their chronic kidney diseases started from infancy. However, when we diagnosed renal failure, secondary heart failure had already developed. When skull, face, and skeletal abnormalities are observed, it is important to check renal function. Keeping CED in mind could prevent severe complications.