Tags

Type your tag names separated by a space and hit enter

Short stature: making a crystal clear diagnosis.
J Pediatr Endocrinol Metab 2019; 32(10):1187-1191JP

Abstract

Background Short stature is a common presentation in paediatric practice. Rickets can lead to poor growth and finding the underlying cause of rickets can, at times, be challenging. Case presentation The child was initially referred due to parental concerns of delayed walking, bowed legs, waddling gait and faltering growth. She was noted to have features of rickets. Bone profile and renal functions were reported to be within the normal range, however, on later review it was noted that adult values for inorganic phosphate had been given for reference ranges. Following a series of investigations, the underlying diagnosis for all her problems was made. Discussion This case demonstrates the complex diagnostic journey of a child whose presentation was not typical of the rare disorder. Unusually, the patient had no symptoms of polyuria or polydipsia and urine osmolality was normal.

Authors+Show Affiliations

Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Eaton Road, Liverpool L12 2AP, UK.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31600138

Citation

Blackburn, James, and Renuka Ramakrishnan. "Short Stature: Making a Crystal Clear Diagnosis." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 32, no. 10, 2019, pp. 1187-1191.
Blackburn J, Ramakrishnan R. Short stature: making a crystal clear diagnosis. J Pediatr Endocrinol Metab. 2019;32(10):1187-1191.
Blackburn, J., & Ramakrishnan, R. (2019). Short stature: making a crystal clear diagnosis. Journal of Pediatric Endocrinology & Metabolism : JPEM, 32(10), pp. 1187-1191. doi:10.1515/jpem-2019-0133.
Blackburn J, Ramakrishnan R. Short Stature: Making a Crystal Clear Diagnosis. J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1187-1191. PubMed PMID: 31600138.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short stature: making a crystal clear diagnosis. AU - Blackburn,James, AU - Ramakrishnan,Renuka, PY - 2019/03/20/received PY - 2019/06/10/accepted PY - 2019/10/11/entrez PY - 2019/10/11/pubmed PY - 2019/10/11/medline KW - Fanconi syndrome KW - bone KW - phosphate KW - short stature SP - 1187 EP - 1191 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 32 IS - 10 N2 - Background Short stature is a common presentation in paediatric practice. Rickets can lead to poor growth and finding the underlying cause of rickets can, at times, be challenging. Case presentation The child was initially referred due to parental concerns of delayed walking, bowed legs, waddling gait and faltering growth. She was noted to have features of rickets. Bone profile and renal functions were reported to be within the normal range, however, on later review it was noted that adult values for inorganic phosphate had been given for reference ranges. Following a series of investigations, the underlying diagnosis for all her problems was made. Discussion This case demonstrates the complex diagnostic journey of a child whose presentation was not typical of the rare disorder. Unusually, the patient had no symptoms of polyuria or polydipsia and urine osmolality was normal. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/31600138/Short_stature:_making_a_crystal_clear_diagnosis L2 - https://www.degruyter.com/doi/10.1515/jpem-2019-0133 DB - PRIME DP - Unbound Medicine ER -