title: Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene.
abstract: A 2-week-old infant presented with bilateral rib fractures, hypercalcemia, and subperiosteal bone erosions. Parathyroid hormone levels were elevated and urine calcium low. Her parent's laboratory test results were normal. Gene sequencing revealed a new mutation of the calcium-sensing receptor gene, causing severe neonatal hyperparathyroidism, a variant of hypocalciuric hypercalcemia. This is a rare cause of neonatal hyperparathyroidism and nonabusive fractures.
authors.affiliation: Department of Pediatrics, Division of the University of Washington School of Medicine, Children's Hospital and Regional Medical Center, Seattle, USA.
authors.forename: Kristin
authors.initials: K
authors.lastname: Nyweide
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Feldman
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gunther
authors.forename: Stephen
authors.initials: S
authors.lastname: Done
authors.forename: Charlotte
authors.initials: C
authors.lastname: Lewis
authors.forename: Claire
authors.initials: C
authors.lastname: Van Eenwyk
mesh_terms: D019943:Amino Acid Substitution; D002118:Calcium / Q000652:urine*; D002649:Child Abuse / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology*; D006337:Heart Murmurs; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology*; D049950:Hyperparathyroidism, Primary / Q000097:blood / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D020125:Mutation, Missense; D010281:Parathyroid Hormone / Q000097:blood; D017354:Point Mutation; D044169:Receptors, Calcium-Sensing / Q000172:deficiency / Q000235:genetics*; D012120:Respiration Disorders / Q000209:etiology; D012253:Rib Fractures / Q000209:etiology*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D002118:Calcium