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At least 127 records · Page 7Linked to original sources
PubMed1984

[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].

A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.

Achondroplasia↗
PubMed1998

Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs.

We report on a previously undescribed form of lethal osteosclerotic skeletal dysplasia in sibs from nonconsanguineous parents. Radiographic findings included increased density in the base of the skull, clavicles, vertebrae, ribs, and the metaphyseal regions of the long bones. There was midface hypoplasia, a large anterior fontanel, micrognathia, and hypoplastic, wafer-thin vertebrae. The clavicles, ribs, metacarpals, metatarsals, and phalanges were especially thickened and widened. The long bones were shortened with flared metaphyses. Chondroosseous morphology of resting cartilage and growth plate was relatively normal, but there was hypercellular cortical and trabecular bone, and marrow fibrosis. Ultrastructurally, the resting chondrocytes, osteoblasts, and nonhematopoietic marrow cells had dilated rough endoplasmic reticulum (inclusion bodies). The radiographic and morphologic characteristics in this case are unique and differ from those seen in other previously reported lethal osteosclerotic skeletal dysplasias.

Abortion, Induced↗
PubMed1990

Mild form of Jeune syndrome in two sisters.

Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life. However, some cases with milder clinical manifestations have been described; these cases show characteristic renal involvement of different severity. The authors report on two cases of the mild form of Jeune syndrome in sisters.

Asphyxia Neonatorum↗
PubMed2007

Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.

Terminal osseous dysplasia with pigmentary defects is an extremely rare condition characterized by the triad of pigmentary anomalies of the skin, skeletal abnormalities of the limbs and recurring digital fibromatosis of childhood, with considerable interfamilial and intrafamilial variability of expression. It has recently been added to the small group of X-linked dominant disorder with prenatal male lethality on the basis of a four-generation pedigree in which only females were affected, male progeny was decreased and the number of spontaneous abortions was increased. In this clinical report, we describe a 2-year-old girl with full expression of the syndrome including skin defects, skeletal anomalies and recurrent fibromatosis of fingers and toes and her mother who presents with only multiple hypertrophic oral frenula. As previously demonstrated, our patients also show an extremely skewed X-inactivation on blood cells, strongly suggesting that there is selective disadvantage for cells carrying the mutated gene on their active X chromosome. Terminal osseous dysplasia with pigmentary defects could represent an additional example of extreme intrafamilial variability as already described for other X-linked dominant disorders.

Abnormalities, Multiple↗
PubMed1996

Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature.

OBJECTIVE: To report examples of disorders characterized by bone fragility, calvarial and/or gnathic fibro-osseous lesions, and metadiaphyseal undermodeling of the tubular bones. DESIGN: The clinical, radiological, and pathological features of two patients are described and the literature reviewed. PATIENTS: The patients comprised a 10-year-old boy and a 48-year-old woman. The former exhibited multiple fractures starting in early childhood and calvarial masses which developed in late childhood; the latter showed a mandibular mass. RESULTS: Calvarial doughnut lesions, osteopenia with coarse bony trabeculae, and undermodeling of the lower limbs were radiologically demonstrated in the first patient, while multiple sclerotic foci in the maxilla and mandible, spontaneous bowing of the right femur, and minimal undermodeling of the tibiae were demonstrated in the second. Bone biopsy of the iliac crest in the first patient revealed histologically normal bony trabeculae. Bone histomorphometry suggested an increased osteoid surface. Osteoid volume was also slightly increased. The pathological findings of the mass in the jaw in the latter patient were consistent with it being a fibro-osseous lesion. The literature review revealed several patients whose features overlapped with those of our patients. CONCLUSION: These patients may represent a group of fragile bone syndromes which differ from osteogenesis imperfecta.

Bone Diseases, Developmental↗
PubMed1978

Skeletal lesions in the broiler, with special reference to dyschondroplasia (osteochondrosis). Pathology, frequency and clinical significance in two strains of birds on high and low energy feed.

The material consisted of 2,950 broilers of the variety Hybro Compact of two lines. An equal number of birds of both lines were given either a high energy feed (H) or a low energy feed (L), containing all nutrients known to be required by broilers. During the first 3 weeks, H and L starter feeds were given and thereafter H and L finishing feeds. At 21, 35, and 45 days of age, the birds were weighed in groups, and feed conversion calculated. At 21 days of age, the frequency of crooked toes and swollen hocks was registered. Birds were taken from each group for necropsy at regular intervals. Both clinically normal birds and those with locomotor disturbances were selected for necropsy, including radiographic examination. With the exception of 240 birds, which were kept for a long-term study, the birds on the H feed were slaughtered at 42 days of age and the ones on the L feed at 49 days of age. The long-term birds were slaughtered at regular intervals, weighed, and necropsied. The last birds were slaughtered at 134 days of age. A large number of skeletal lesions were found. They were: Twisted legs, slipped tendons, crooked toes, bowing of the proximal tibia, dyschondroplasia at different sites, fracture of the fibula, deformity of the spine, deviated sternum (with breast blisters), arthritis, and osteomyelitis. Leg weakness was found to be almost synonymous with skeletal deformities. Other causes were rare. The normal development and morphology of the skeleton and the morphology of tibial dyschondroplasia were the same as those previously described in the turkey. Dyschondroplasia was found not only in the proximal tibia but also in the distal tibia, proximal tarsometatarsus, proximal and distal femur, and to some extent also in the costochondral junction. Tibial dyschondroplasia was more common in the birds on the H feed than in the birds on the L feed. Hence, tibial dyschondroplasia was correlated with rapid growth. The other skeletal lesions did not differ in incidence in the birds on the H and L feeds. It was postulated that greater difference in growth rate is necessary for a demonstration of a possible correlation between skeletal deformities and growth rate.

Animal Feed↗
PubMed1986

[Disorders of bone metabolism in premature infants].

Extremely low birth weight infants are particularly prone to rickets (osteopenia) due to their rapid growth and to deficient intake of calcium and phosphate. In some premature infants suffering from phosphate depletion hypercalcemia syndrome may precede bone demineralisation. Additionally, the adverse effects of calciprivic drugs (phenytoin, phenobarbital, glucocorticoids, furosemide, heparin) contributing to the development of neonatal rickets are discussed. Phosphorus depleted or heparin treated experimental animals develop impairment of mineralisation as manifested by rickets or osteomalacia. Some clinical cases of neonatal rickets are reported and a dosage schedule for parenteral infusion of minerals is given.

Bone Diseases, Developmental↗