title: Congenital rickets presenting as refractory respiratory distress at birth.
abstract: Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College, New Delhi, 110001, India, soumyaakshay@gmail.com.
authors.forename: Soumya
authors.initials: S
authors.lastname: Tiwari
authors.forename: Rajesh
authors.initials: R
authors.lastname: Kumar
authors.forename: Shilpy
authors.initials: S
authors.lastname: Singla
authors.forename: Ajay
authors.initials: A
authors.lastname: Dudeja
authors.forename: Sushma
authors.initials: S
authors.lastname: Nangia
authors.forename: Arvind
authors.initials: A
authors.lastname: Saili
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis*; D012279:Rickets / Q000151:congenital* / Q000175:diagnosis* / Q000188:drug therapy; D014807:Vitamin D / Q000008:administration & dosage
chemical_list: D014807:Vitamin D