Congenital chondrodysplastic dwarfism with dyshematopoiesis in a holstein calf.

A holstein calf with congenital chondrodysplastic dwarfism was histopathologically examined. The head of the calf was relatively flat giving a dog-like appearance with its short nose and sloping forehead. Limb bones were dumbbell-like with short diaphysis and hypertrophied metaphyses. Bone marrow was pale, whitish and fatty. In the metaphyseal plates most of chondrocytes were pyknotic with swollen and ghost-like cytoplasm, and were irregularly arranged. Column of calcified cartilage were poorly formed losing comb-like structure. Bone marrow was ischemic with poor hematopoiesis and was moderately replaced by adipose tissue. In articular cartilage, most of chondrocytes were degenerated with ghost-like cytoplasm. Many cartilage canals and occasional bone marrow-like structure were formed. The characteristics lesions of the calf were chondrodysplasia and dyshematopoiesis.

Growth patterns in patients with unoperated congenital vertebral anomaly.

Retrospective analysis of height and weight data recorded during routine clinic visits of children with congenital vertebral anomaly were related to decimal age and compared with national centiles. Individuals were dropped from the study at surgery. Growth followed a normal trajectory until puberty, although girls tended to be smaller than average. At puberty, they lagged behind their peers and at maturity were shorter than average. This does not appear to be a hormonal problem, and suggests a fundamental failure of growth.

Congenital skeletal abnormalities: an introduction to the radiological semiology.

Despite the recent advances in the molecular diagnosis of congenital abnormalities, the initial identification and the decision to refer a patient for further molecular analysis and expensive genetic tests still relies frequently on clinical and radiological criteria. The radiological identification of syndromes, dwarfs and dysplasias is a difficult task, because there are so many findings to consider and so many syndromes to remember that the problem is overwhelming. There is a definite need for an easy and systematic analysis system, in order to try to categorize a skeletal dysplasia in a certain group. In this brief review, we suggest an approach to the evaluation of skeletal syndromes, based on the analysis of cardinal criteria, from which the most useful information is derived, and additional criteria, making further differentiation possible. Generally, cardinal information is derived from analysis of the long bones, hands, pelvis and the spine, whereas the analysis of other skeletal elements, like the skull, feet, and other flat bones is of additional value.

3-M syndrome: a prenatal ultrasonographic diagnosis.

The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were on the fifth centile and the radius, ulna and humerus lengths were below the fifth centile. A second scan at 22 weeks showed slowing of growth of all long bones, with the femur, tibia, fibula, humerus, radius and ulna lengths further below the fifth centile. The pregnancy was terminated and postmortem examination confirmed the prenatal diagnosis. The differential diagnosis of skeletal dysplasias characterized by a slow growth of long bones is discussed and the conclusion reached that the detection of shortened long bones (below the fifth centile) is the only ultrasonographic finding of 3-M syndrome.

Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

A síndrome de Cockayne (CS) é uma desordem autossômica recessiva caracterizada por nanismo, déficit de crescimento, deterioraçäo neurológica, fotossensibilidade e uma progressiva aparência facial característica. Neste artigo relatamos a primeira família brasileira com CS, cujo diagnóstico foi confirmado pela demonstraçäo de uma síntese diminuída de RNA na cultura de fibroblastos expostos à radiaçäo ultravioleta. Apesar do curso progressivo da doença e da inexistência de um tratamento efetivo, o diagnóstico faz-se muito importante, pois a família pode se beneficiar do aconselhamento genético e/ou do diagnóstico pré-natal.

Congenital joint laxity and disproportionate dwarfism in a herd of beef cattle.

Three calves from a herd of beef cattle were examined because of disproportionate dwarfism and excessive extension of metacarpophalangeal and metatarsophalangeal joints. Abnormalities had been noticed at birth, 1 to 6 days earlier. A thorough herd investigation revealed that 16 calves born to 70 multiparous cows were affected during the calving season. The condition did not adversely affect calf survival. Affected calves had limbs that were disproportionally short, compared with their trunk size, and wide epiphyses of the femurs and humeri. Radiographic evaluation revealed incomplete maturation of carpal and tarsal bones and incomplete maturation and abnormal flaring of epiphyses of the short humeri and femurs. Histologic findings were consistent with chondrodystrophy. This disorder had not been seen in the herd in previous years and was traced to feeding of dry, spoiled silage to the dams during midgestation. Covering the silage prevented problems in the subsequent year.

Ciliary body is not hyperplastic in Weill-Marchesani syndrome.

PURPOSE: To demonstrate the in-vivo morphology of the ciliary body in Weill-Marchesani syndrome which might be of pathophysiological importance for the spherical shape of the crystalline lens. METHODS: Three juvenile patients with Marchesani syndrome were examined by ultrasound biomicroscopy of the anterior segment. RESULTS: The in-vivo configuration of the ciliary body in these Weill-Marchesani patients with normal axial length of the eye showed no signs of hyperplasia, and was even relatively small. CONCLUSION: Spherophakia and hyperplasia of the ciliary body are not necessarily associated with the syndrome, as supposed by Marchesani and other investigators. Instead, spherophakia might be regularly accompanied by a small ciliary body in Weill-Marchesani syndrome.

Meckel-Gruber syndrome associated with short limbed dwarfism.

Antenatal detection of Meckel-Gruber Syndrome associated with short-limbed devarfism is described here. This association has not been previously reported.

Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.

UNLABELLED: The spontaneous growth of 386 patients (163 girls and 223 boys) with Silver-Russell syndrome (SRS) was analysed in a mixed longitudinal and cross-sectional manner. One hundred and twenty patients were seen in the two centres between 1970 and 1993, additional definite cases were added from the literature. Mean (+/- SD) length of full-term babies with SRS at birth was 43.1 +/- 3.7 cm (n = 102) in both sexes. Mean weight at birth was 1940 +/- 353 g in boys and 1897 +/- 325 g in girls. During the first 3 years of life there was poor growth with a further loss in height. Between ages 4 and 10 years there was constant growth in parallel to the 3rd percentile with a mean height SDS of -4.3. The pubertal growth spurt was reduced in the whole group. Bone age development paralleled growth, retardation increased during the first years, remained constant during prepubertal time and caught up in early puberty. Mean adult height was 151.2 +/- 7.8 cm in males and 139.9 +/- 9.0 cm in females. Head circumference for age was in the lower normal range (mean SDS for 156 prepubertal boys -1.8; mean SDS for 97 prepubertal girls -2.2). CONCLUSION: Normative data on spontaneous growth of children with Silver-Russell syndrome are described, allowing a better counselling of patients as well as the judgement of the effects of growth promoting therapies.

Progressive kyphosis and neurologic compromise complicating spondylothoracic dysplasia in infancy (Jarcho-Levin syndrome).

STUDY DESIGN: This is a case report and review of the literature. OBJECTIVE: To review the orthopedic literature regarding the spinal abnormalities found with spondylothoracic dysplasia, and to present the history and management of severe kyphosis with neurologic impairment in an infant with spondylothoracic dysplasia. SUMMARY OF BACKGROUND DATA: Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a rare form of short-limbed dwarfism characterized by extensive vertebral and chest-wall abnormalities. Although the spinal anomalies generally are radiographically severe, no patient previously reported in the English orthopedic literature has required surgical stabilization. METHODS: The clinical findings, course, and surgical management of an infant with spondylothoracic dysplasia and severe congenital kyphosis are presented. This patient required anterior decompression and anterior/posterior spinal fusion to obtain stabilization. The follow-up from the index surgical procedure was 2 years. RESULTS: The patient underwent an initial anteroposterior fusion and decompression at 5 months of age. She underwent revision of both anteroposterior procedures 7 months later because of pseudarthroses and a progressive kyphosis. Her residual neurologic abnormality was minimal and she appeared to have a stable fusion at 24 months post-index procedure. CONCLUSIONS: The spinal abnormalities associated with spondylothoracic dysplasia may not be as benign as previously reported. Sagittal, as well as frontal, plane deformities may exist secondary to multiple hemivertebrae. Longer life span, possibly due to improved pulmonary care, may increase the incidence of deformities requiring intervention.

Anesthesia for scoliosis: dwarfism and congenitally absent odontoid process.

Scoliosis surgery presents the anesthetist with specific clinical challenges. Since scoliosis is the most common problem for which patients of congenitally short stature present to the operating room, the preoperative evaluation of dwarfs is discussed here in the context of a patient with spondyloepiphyseal dysplasia congenita. In the case described, many of the deformities associated with dwarfism were present. The significance of these to the preoperative, intraoperative, and postoperative care is discussed. Consideration is given to cervical spine abnormalities, congenital absence of the odontoid process, pulmonary function abnormalities, and mucopolysaccharidosis (a syndrome which may compromise airway management). The intraoperative monitoring of somatosensory evoked potentials and their significance are also discussed.