PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Bone Diseases, Developmental”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed2006

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.

PURPOSE OF REVIEW: P450 oxidoreductase deficiency--a newly described form of congenital adrenal hyperplasia--typically presents a steroid profile suggesting combined deficiencies of steroid 21-hydroxylase and 17alpha-hydroxylase/17,20-lyase activities. These and other enzymes require electron donation from P450 oxidoreductase. The clinical spectrum of P450 oxidoreductase deficiency ranges from severely affected children with ambiguous genitalia, adrenal insufficiency and the Antley-Bixler skeletal malformation syndrome to mildly affected individuals with polycystic ovary syndrome. We review current knowledge of P450 oxidoreductase deficiency and its broader implications. RECENT FINDINGS: Since the first report in 2004, at least 21 P450 oxidoreductase mutations have been reported in over 40 patients. The often subtle manifestations of P450 oxidoreductase deficiency suggest it may be relatively common. P450 oxidoreductase deficiency, with or without Antley-Bixler syndrome, is autosomal recessive, whereas Antley-Bixler syndrome without disordered steroidogenesis is caused by autosomal dominant fibroblast growth factor receptor 2 mutations. In-vitro assays of P450 oxidoreductase missense mutations based on P450 oxidoreductase-supported P450c17 activities provide excellent genotype/phenotype correlations. The causal connection between P450 oxidoreductase deficiency and disordered bone formation remains unclear. SUMMARY: P450 oxidoreductase mutations cause combined partial deficiency of 17alpha-hydroxylase and 21-hydroxylase. Individuals with an Antley-Bixler syndrome-like phenotype presenting with sexual ambiguity or other abnormalities in steroidogenesis should be analyzed for P450 oxidoreductase deficiency.

Adrenal Hyperplasia, Congenital↗
PubMed2002

Skeletal development in premature infants: a review of bone physiology beyond nutritional aspects.

Bone development is usually seen as a process of bone mineral accretion or increase in bone mass, and treatment of bone disorders usually consists of attempts to maximise bone mass accumulation by nutritional means only. However, from a functional perspective, bones should not be as heavy as possible, but rather as stable as necessary. It is therefore important to create conditions that stimulate bones to become more stable.

Bone Development↗
PubMedDate not supplied

The infant skull: a vault of information.

The art of interpreting skull radiographs is slowly being lost as trainees in radiology see fewer plain radiographs and depend more heavily on computed tomography and magnetic resonance imaging. Nevertheless, skull radiographs still provide significant information that is helpful in finding pathologic conditions and appreciating their extents. Abnormalities in the skull may be reflected as variations in the density, size, and shape of the skull, as well as skull defects. Skeletal dysplasias may manifest as a generalized decrease in calvarial density (hypophosphatasia, osteogenesis imperfecta), a generalized increase in calvarial density (osteopetrosis), or a focal increase in density (frontometaphyseal dysplasia). Diffusely decreased or increased calvarial density is usually associated with a process that affects the entire skeleton. Therefore, correct differentiation among these dysplasias depends on other concurrent features. Decreased size of the cranial vault at birth generally implies an underlying insult to the brain, including fetal alcohol syndrome and the so-called TORCH infections (toxoplasmosis, rubella, cytomegalovirus infection, herpes simplex). Macrocephaly may result from skeletal dysplasia or an increase in the intracranial volume (eg, due to underlying anomalies of the brain such as hydrocephalus).

Bone Density↗
PubMed2006

The aetiology of angular deformities of the lower limb in children in Malawi: a review of 35 patients.

The aetiology of 35 Malawian children with angular deformities of the lower limb, including 18 with varus,13 with valgus and four with windswept deformities, was assessed prior to surgical correction by proximal tibial or distal femoral osteotomies. Among the varus limbs, the aetiologies were ligamentous laxity of the knee (7), lesions of the medial tibial metaphysis (3), bowing of the femora and tibiae (3), and there were two girls with the end stage of Blount's disease. Among the valgus patients, eight had extremes of physiological knock knee and five had valgus bowing of the femora or tibiae.

Bone Diseases, Developmental↗
PubMed1980

Infantile metaphysial dysplasia or "battered babies"? A reassessment of material in the Fairbank Collection.

The Fairbank Collection in the Radiology Department of the Royal National Orthopaedic Hospital contains details of 15 patients in the section labelled "Metaphysial Dysplasia and Dysostosis". This material has been reviewed, long-term follow-up of the patients carried out and the diagnosis revised, where indicated, according to current concepts. Of the 15 patients, all children, seven had recognisable bone dysplasias. The remaining eight, all listed under the heading "metaphysial fragility", had the characteristic radiographic features of "battered" babies.

Bone Diseases, Developmental↗
PubMed2006

[Bone metabolisms of aromatase-knockout mice in male].

Aromatase converts androgen to estrogen as the sole enzyme that related bone metabolism as well as gonadal-genesis. We previously discovered aromatase-knockout (ArKO) mice showed bone loss that associated with increasing bone resorption was seen in both female and male mice. This is suggesting essential roles of estrogen for bone metabolism in both of gender. When male ArKO mice were orchidectomized (ORX) to induce a complete deficiency of both estrogen and androgen, ORX/ArKO showed severe osteopenia. The complexities for use of estrogen and androgen in bone metabolisms may have distinct or synergistic roles of bone turnover in female and male mice before/after reaching to sexual maturity.

Androgens↗
PubMed1991

[Current theories on the etiology and pathogenesis of overload diseases of bones].

The state of the neuroendocrine system and protein metabolism was studied in 307 young servicemen having overload disease of bones. It was established that in 92.9% of the patients the level of growth hormone--somatotropic hormone, was considerably reduced, production of important for osteogenesis thyroid hormones was disturbed and dissociation of protein fractions was detected which is thought by the author to be the primary cause of the overload disease of the bones.

Adolescent↗
PubMed1991

[Diagnostic considerations in "constitutional bone diseases"].

The author makes a few diagnostic comments regarding the so-called constitutional bone diseases, quoting the international nomenclature and a classification which is thought to be useful for diagnosis, based on clinical and radiological criteria rather than purely structural and metabolic findings.

Bone Diseases, Developmental↗