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At least 91 records · Page 5Linked to original sources
PubMed1992

Pediatric pelvis: radiographic appearance in various congenital disorders.

This article presents the spectrum of pelvic abnormalities in developmental diseases of bone. The pelvis comprises the ilium, ischium and pubis, and the sacrum. Knowledge of pelvic embryology and normal development is essential in recognizing pelvic abnormalities and disorders, which involve the number of bone elements, rate of ossification, density, and size or shape. Anarchic development of bone and dysplasias identifiable at birth must also be considered. The pelvis is important in the evaluation of such disorders because of the frequent, varied, and often specific radiologic abnormalities. The pelvis may also be the first evidence for a congenital malformation syndrome because it is often included in routine radiographic examinations.

Bone Diseases, Developmental↗
PubMed1979

Kniest dysplasia. A histochemical study of the growth plate.

Chondro-osseous tissue from four patients with the Kniest dysplasia was studied histochemically using a new plastic embedding technique. Extensive vacuolar changes were observed p--1 throughout the endochondral growth plate and adjacent resting cartilage. These changes occurred within the cartilage matrix and also in the lacunae of degenerating chrondrocytes. The septa of the lesions contained chondroitin sulfate, but little keratan sulfate or collagen. Resting cartilage not adjacent to the growth plate stained irregularly and showed few of the vacuolar lesions, and chondrocytes were enlarged and contained cytoplasic inclusions, but no vacuolar material. Thus, there appears to be a sequence of events initiated by cellular accumulation of a substance and progressing to cellular and matrix degeneration.

Adolescent↗
PubMed1983

Ultrasonographic diagnosis of second-trimester skeletal dysplasias: a prospective analysis in a high-risk population.

Sixteen pregnancies in 15 women at high genetic risk for having fetuses with skeletal dysplasias were examined by use of ultrasonography during the second trimester. In addition to the routine examination of fetal head and body, the fetal calvarium, spine, ribs, pelvis, and long bones were specifically evaluated for bone brightness, deformity, fractures, and inappropriate growth. It was determined that 11 of the 16 fetuses were normal and five were abnormal. At birth, all 11 ultrasonographically determined normal fetuses were normal, and at birth or elective termination of pregnancy the other five were abnormal. All abnormalities detected by ultrasonography in the affected fetuses were found at delivery, including decreased bone brightness, deformity of the head and long bones, and fractures and abnormal growth of the long bones. On the basis of this study, it is felt that ultrasonography is highly accurate for the diagnosis of many second-trimester skeletal dysplasias.

Bone Diseases, Developmental↗
PubMed1982

Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings.

In a study of 300 Alaskan Malamutes, dwarfism was shown to be an autosomal recessive inherited disease with complete penetrance that resulted in disturbed endochondral bone formation. Osseous growth disturbance was manifest at the metaphyses of tubular bones. Clinical and radiographic changes were very similar to those of rickets, although appositional bone formation rates were normal. Serum calcium, phosphorus, and alkaline phosphatase were within normal limits. Urinary excretion of calcium, phosphate, and amino acids were normal. Excess matrix was formed in the zone of cartilage cell proliferation, and the matrix persisted in the growth plate. Normal stresses resulted in microfractures in the metaphyses with subsequent interference of vascular penetration into the zone of degenerated cartilage cells.

Alkaline Phosphatase↗
PubMed1980

Premature closure of the distal radial physis in two dogs.

Premature closure of the distal radial physis was diagnosed in two dogs. In one dog, the premature closure was symmetric; in the other, it was asymmetric. Lameness, elbow subluxation, distended elbow joint capsule, forelimb muscle atrophy, and a shortened radius and ulna had developed in each dog. Carpal valgus and outward rotation of the paw had developed in the dog with asymmetric closure. Surgical treatment resulted in marked improvement of forelimb function in both dogs.

Animals↗
PubMed1996

High resolution real time ultrasonography in antenatal diagnosis of skeletal anomalies.

Two protocols were used for the ultrasonographic antenatal diagnosis of skeletal anomalies. The first was less selective and was used in pregnancies with a low risk of skeletal malformations. The second was applied to higher risk pregnancies. Both involved several ultrasound examinations, according to the patient's past medical history. In the period 1988 to 1993, 740 pregnant women in whom fetal malformations were suspected underwent serial ultrasound scanning. In 56 (7.5%), a skeletal anomaly was identified. The use of two protocols offers wide applicability and acceptable reliability in screening congenital skeletal problems in the fetus.

Abnormalities, Multiple↗
PubMed1998

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in case 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and parents. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described previously. Autosomal recessive inheritance is the most likely cause of this putative "new syndrome."

Abortion, Induced↗
PubMed2003

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Transforming growth factor-beta (TGF-beta) regulates many cellular processes through complex signal-transduction pathways that have crucial roles in normal development. Disruption of these pathways can lead to a range of diseases, including cancer. Mutations in the genes that encode members of the TGF-beta pathway are involved in vascular diseases as well as gastrointestinal neoplasia. More recently, they have been implicated in Cowden syndrome, which is normally associated with mutations in the phosphatase and tensin homologue gene PTEN. Molecular studies of TGF-beta signalling are now showing why mutations in genes that encode components of this pathway result in inherited cancer and developmental diseases.

Animals↗
PubMed2005

Ulnar focal cortical indentation: a previously unrecognised form of ulnar dysplasia.

Deformity of the forearm due to growth disturbance of the ulna occurs in a number of conditions such as ulnar deficiency, multiple exostoses, and neurofibromatosis. We report a previously unrecognised form, caused by focal cortical indentation. We have treated five children with this condition, three girls and two boys; the mean age at presentation was 5 years (2 to 8). The deformity was first recognised about the age of two years, and progressed gradually. The radiological findings were the same in all cases. The focal cortical indentation was seen at the distal end of the ulna with anteromedial bowing and dysplasia. The radial head was dislocated posterolaterally. In one patient the histological findings at the site of indentation were of a fold of tissue resembling periosteum, which interfered with enchondral ossification. Treatment by ulnar lengthening using an external fixator and osteotomy which corrected both the ulnar deformity and reduced the dislocated radial head in two cases gave the best results.

Bone Diseases, Developmental↗