We performed a literature search for other cases that have been described as ADH1 with possible growth defects and identified 1 study describing a family with autosomal dominant hypoparathyroidism, short stature, and premature osteoarthritis,39 in which a CaSR variant, Leu616Val, had been identified to co-segregate with affected family members, but limited functional studies had not demonstrated a GOF. This evidence concerns the gene CASR and hypoparathyroidism, familial isolated 1.