Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.
Heidi SchigtMartin BaldBram C J van der EerdenLars GalBarnabas P IlenwaborMartin KonradMichael A LevineDong LiChristoph J MacheSharon MackinColin PerryFrancisco J RiosKarl Peter SchlingmannBen StoreyChristine M TrappAnnemieke J M H VerkerkM Carola ZillikensRhian M TouyzEwout J HoornJoost G J HoenderopJeroen H F de BaaijPublished in: The Journal of clinical endocrinology and metabolism (2023)
Our case series established chronic kidney disease as a new feature of KCS2. In literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
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