[HTML][HTML] Rickets presenting as gross motor delay in twin girls

C Prasad, E Cummings - CMAJ, 2018 - Can Med Assoc
Discussion Gross motor delay, weakness and hypotonia are a common clinical presentation
of neuromuscular disorders, such as congenital myopathies and cerebral palsy. Rickets can …

Rickets: not just a disease caused by vitamin D deficiency

LH Zauche - Journal of Pediatric Health Care, 2017 - jpedhc.org
CASE PRESENTATION A 2-year, 10-month-old White girl presented to a pediatric clinic with
an abnormal wide gait and genu varum. She had been an established patient at the clinic …

[PDF][PDF] Case Report Hypercalciuria and nephrolithiasis on long-term follow-up of Pseudo-vitamin D deficiency rickets

BA Laway, AI Wani, SR Masoodi, MI Bashir, MA Ganie… - academia.edu
A case of pseudovitamin D deficiency (Vitamin D dependent rickets type I) is presented, who
initially responded to physiological doses of calcitriol but developed nephrolithiasis and …

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

CP Rodda, MA Levine, JD Roizen, MK Javaid… - Bone …, 2017 - bone-abstracts.org
Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a
failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be …

Rickets: the chicken or the egg!

LA Barness - The Journal of pediatrics, 1996 - jpeds.com
I read with interest the article by Oginni et al. 1 on the etiology of rickets in Nigerian children.
This article touches on an interest that I have had for many years in vitamin D, calcium, and …

[CITATION][C] A case of pseudovitamin D deficiency-like rickets in an infant treated with 1, 25-dihydroxycholecalciferol. Preliminary note

F Vecchio, F Carnevale, G Paganetti… - Journal of Inherited …, 1978 - Springer
A 5-month-old male infant of non-consanguineous parents presented life threatening
laringospastic crises and carpo-pedal spasms since he was 4 months old. Neither symptoms …

Rickets resurgence in the United Kingdom: improving antenatal management in Asians

BR Pal, NJ Shaw - The Journal of pediatrics, 2001 - jpeds.com
We refer to your recent editorial1 and article detailing the reappearance of rickets in your
ethnic group, particularly in the offspring of breast-feeding African American women. 2 We …

Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy

Y Yan, AS Calikoglu, N Jain - Journal of Child Neurology, 2011 - journals.sagepub.com
Vitamin D-dependent rickets type 1 is an autosomal recessive disorder caused by an
inactivating mutation of the 25-hydroxyvitamin-D-1α-hydroxylase (CYP27B1) gene. Clinical …

Severe vitamin D deficiency—rickets

TJ Caruso, G Fuzaylov - New England Journal of Medicine, 2013 - Mass Medical Soc
A 12-year-old girl from Ukraine was hospitalized for evaluation of a history of long-bone
fractures and failure to thrive. On initial presentation, she had hypocalcemia (calcium level …

[HTML][HTML] A case of vitamin-D dependent type-1A rickets

A Gupta, S Mukherjee, SK Bhadada - IJEM Case Reports, 2023 - journals.lww.com
Rickets is a disease of growing bones characterized by softening of bones as a result of
defective mineralization of cartilage in the epiphyseal growth plate. The predominant cause …