Bone Abstracts

Introduction: Measures of physical function may be related to osteoporosis and fractures in older individuals and may thus be used in the identification of individuals at high fracture risk.Aim: The aim of this study was to investigate which measures of physical functioning are associated with bone quality and fracture incidence and whether gender-specific differences exist within these associations.Methods: We studied 1486 partici...

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

Background and Objectives: The relations among cortical volumetric bone mineral density (CortBMD) and comprehensive measures of mineral metabolism have not been addressed in chronic kidney disease (CKD). The aim was to identify determinants of CortBMD in childhood CKD. A secondary objective was to assess if CortBMD was associated with subsequent fracture.Design/participants: This prospective cohort study in children, adolescents and young adults (ages 5&...

Introduction: Resistance to thyroid hormone (RTH) is a rare disease, characterized by elevated thyroid hormone and not suppressed TSH concentrations. In 85% of cases it is related to TRβ gene mutations.Objectives: To evaluate biochemical and densitometric features of 14 patients with RTH (RTHG: 7 females (4 children) and seven males (2 children)) in comparison to 24 control subjects (CG, 14 females (8 children) and 10 males (4 children)).<p clas...

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...