Bone Abstracts

Background: Although both testosterone and estrogens are considered essential for normal bone growth, epiphyseal maturation and bone mass accrual during adolescence, only very few data concerning the changes of estrogens, bone maturation, bone mineral density (BMD) and bone geometry in healthy boys at different pubertal stages have been published.Objectives: This study aimed to analyze the relationship between sex steroids and more especially estrogens a...

Objectives: Maximising peak bone mass (PBM) during growth is an essential part in the prevention of fractures and osteoporosis later in life. Two of the most important modifiable factors influencing PBM are diet and physical activity (PA). These factors can have either a direct or indirect effect on bone. For example, increasing PA would increase loads directly to the bone or cause muscle changes which would drive changes in bone. This study aimed to assess whether there was a...

Introduction: Osteopenia is a well-known complication of anorexia nervosa (AN) in older adolescents and adults, especially in those with a long duration of the disease and a severe underweight.Aim: We investigated whether young premenarchal girls with AN have similar risk factors for a disturbed bone growth and mineralization.Methods: Twenty-four female premenarchal AN patients as well as 24 age and height matched female controls u...

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...

In clinical research protocols, HR-pQCT images (XtremCT Scanco, voxel size: 82 (μm3) are carried out to evaluate trabecular and cortical bone changes induced by osteoporosis and treatments. Micro-computed tomography (μ-CT) has become a standard tool for examination of trabecular and cortical bone in 3D.The purpose of this study is to evaluate the accuracy of cortical and trabecular measurements derived from HR-pQCT images with morpho...

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...

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Background: Ehlers–Danlos syndrome (EDS) comprises a group of inherited connective tissue disorders, caused by various defects in the biosynthesis or secretion of fibrillar collagens. As collagen represents a major constituent of the bone matrix as well as of tendons and muscle, bone strength in EDS patients might be impaired both via direct and indirect pathways. Although decreased muscle strength, decreased areal bone mineral density (BMD) and increased fracture risk ha...