摘要:

A comprehensive seven-step study on THANATOPHORIC DYSPLASIA without cloverleaf skull (TD Type I) was carried out postmortem on three aborted fetuses of 19, 26–27, and 34 weeks and one preterm neonate of 35 weeks gestation, respectively. The characteristic x-ray configuration of the spine in TD Type I presenting with H-, U- or reversed U-shape vertebrae were shown to correlate with the inclination or reclination of the vertebral bodies within a kyphotic or lordotic segment. The bowing of the tubular bones in TD Type I is explained by a diminished mechanical stability that is causally related to a specific cartilage structure. The perichondral spurs are defined by their morphologic structure, and their origin is attributed to a normal perichondral ossification in the presence of an impaired enchondral ossification. Impairment of enchondral ossification was more evident in the periphery than in the center of the metaphyses leading to a tongue-shaped osseous cone directed toward the epiphysis. The perichondral spurs and the linguiform enchondral growth plate resulted in a three-phase maple leaf-like contour of the metaphyses of tubular bones and acetabular roof. The nature of the perichondral fibrous bands, the fibrovascular bundles, and the fibrovascular bands of the growth plate and their significance in atypical ossification processes are discussed in detail. It is suggested that the diminished longitudinal growth of the skeleton is caused by a reduced mitotic activity of cartilage cells in the proliferative zone leading to a reduction of cell numbers in the columnar zone of the growth plates, and furthermore, by the formation of transversely oriented spongiosa bars resulting from desmal ossification of the metaphyseal fibrovascular structures.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

There is some question about whether the two forms of thanatophoric dysplasia (TD), Type II with and Type I without cloverleaf skull, belong to the same entity. Thus, we investigated one 6-day-old TD with cloverleaf skull using examination of the external phenotype, radiology, autopsy, skeleton preparation, large section histology, detailed section histology, and ultrastructure. The loss of the three-phase contours–characteristics for Type I (54)–in certain metaphyses, the absence of the perichondral spurs to some extent, and their substitution by a structure similar to the perichondral “ring of Lacroix” have a suggested origin in normal cartilage-bone tissue. The same mechanism is postulated (a) for the appearance of less bent or normally shaped tubular bones compared with TD Type I, and their corresponding increased mechanical stability, and (b) for the less amount of platyspondyly in Type II than in Type I. We suggest that the malformation of the cloverleaf skull has its origin in the promontory growth of the relatively normal cartilage-bone tissue at the skull base resulting in an early synostosis and a consecutive fusion of the cranial sutures. The ultrastructural analysis of chondrocytes demonstrates the significant contribution of electron microscopy for TD studies. We suggest that pathologically altered light chondrocytes accounts for plump cross-striated collagen fibrils, the reduced cellular proliferation, and the impaired formation of columnar and hypertrophic zones. It is clear that normal cartilage-bone tissue distributed among “thanatophoric” tissue is the reason for the differences between Type I and Type II. Hypotheses are presented that explain this tissue mosaicism. Thus, TD Type I and TD Type II do not represent two different entities but the same entity with varying features due to mutational events occurring at different times.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brassing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

Antecubital pterygium is rare in the nail-patella syndrome but common in the multiple pterygium syndrome and aplasia of the trochlea. It is known that there is the rebound phenomenon after treatment of congenital joint contracture. We describe the poor functional results due to rapid recurrence of the flexion contracture treated with the Ilizarov method for an antecubital pterygium in the nail-patella syndrome.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation. A Chiari pelvic osteotomy was performed to halt hip subluxation on both sides. The patient was evaluated after 9 years and 10 months. The progressive lateral migration of the femoral head seemed to have been unaffected by this type of osteotomy.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder with normal collagen I. The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from “classical” osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

The use of sonography for the neonatal screening of developmental dysplasia of the hip (DDH) results in the overdiagnosis of this entity. In 1994, we examined sonographi-cally and clinically 8,642 hips belonging to 4,321 neonates and found 8,150 hips clinically and sonographically normal, 398 stable but with various sonographic pathology, and 81 unstable with a variety of sonographic pathology. Using an algorithm we proposed for follow-up, and treatment if necessary, we found that 90.4% of hip joints with DDH were spared unnecessary overtreatment.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

Sixty-six hips of 65 patients with moderate to severe slipped capital femoral epiphysis were treated by open reduction of the femoral head. In 60 hips this procedure was combined with a cuneiform subcapital wedge resection of the femoral neck according to the technique described by Dunn (14). Avascular necrosis occurred in seven cases, and chon-drolysis was evident in eight hips. In the 48 hips with a follow-up time of more than 10 years (M = 20.6), the results were classified as good (normal hip) in 22, moderate in 16, and poor in 10 hips. Compared with the natural disease course, the longterm outcome appears to be improved by open reduction of the femoral head, with 60% of the hips free of degenerative changes and 19% with mild osteoarthrosis. Analysis of individual gliding angles and subcapital correction depending on the direction of the slip should lead to restoration of near-normal anatomic conditions for a normal hip function.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

We have retrospectively reviewed 53 cases (62 hips) with a diagnosis of slipped capital femoral epiphysis. After admission to our Hospital, a skin longitudinal traction was applied for 2 weeks. All patients were treated afterward with pinning in situ without manipulation in the operating room. Group A (31 hips) consisted of patients treated with smooth K wires and group B (31 hips) of patients treated with cannulated screws. We found a high incidence of pin penetration in group A (27 hips), whereas there was just one case in group B. Physeal closure was considered when 75% of proximal growth plate disappeared in the frog lateral view and both groups showed similar values (7 months). Chondrolysis was observed in just three cases in group A, and one case had an avascular necrosis. Few complications were observed compared with the high rate of pin penetration, and we suggest that preoperative traction may be a relevant factor contributing to the low incidence of avascular necrosis (1,6%).

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

In a mass screening project, 872 neonates were examined clinically and by ultrasound. Hip joint stability was assessed in the ultrasound stress test showing a normal or physiologic instability in the range of 0 to 2 mm. Along with the dynamic examination, a modified Grafs method was used. All obtained sonograms were submitted to careful assessment by one of authors, including regular measurement of alpha and beta angles. This relatively small group in the low-risk population served as a model of normality. White newborns compared with an black Caribbean group did not show the presence of apparent primary acetabular dysplasia. Both methods– dynamic ultrasound test and Grafs scanning–seemed to us to be valuable.

ISSN:0271-6798    

出版商:OVID    

年代:1998

数据来源: OVID