ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

SummaryWe report a 3-year-old girl with the association of spondyloepiphyseal dysplasia, nephrotic syndrome, and signs of defective cellular immunity. The findings are similar to those reported by Spranger et al., which have become known as Schimke immunoosseous dysplasia.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

The fourth reported case of humero-spinal dysostosis is notable in that (a) it confirms the unique combination of bifid distal humeri and coronal clefts, (b) involves a third unique feature as being mitral valve thickening, (c) suggests a more generalized involvement of bone in the form of a dysplasia, and (d) raises the possibility of repetitive craniofacial features.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

SummaryWe report two Portuguese sisters aged 9 and 12 years with symmetric well-circumscribed radiolucent cystic lesions on the long bone metaphysis of the hands and feet. The eldest also has soft tissue calcifications. They have no dysmorphic features and their growth is normal. Plasma values of parathyroid hormone (PTH), calcium, phosphorus, magnesium, and alkaline phosphatase are normal. Cerebral computed tomography (CT) scan shows no intracranial calcifications. A Raynaud phenomenon became evident during the last year in the eldest. The incisional biopsy of the left proximal metatarsial was performed through an area of typical radiographic appearance. The pathology specimen consisted of enchondroma tissue. The present cases are an extremely rare instance of this pathology, with symmetrical involvement of the hands and feet and a familial incidence.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous: the mother had not used licit or illicit drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, membrane. and fibroblasts: dihydroxyacetone phosphate acyltransfer-ase (DHAP-AT). alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles. We found no reference in the literature of a case of RCDP with normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

We report a case of a female child born to nonconsanguineous parents who at birth presents a facial dysmorphism including flattened and hypoplasic nose associated with epiphyseal stippling of the tarsal bones, the right hip, the cervical, lumbar, and sacral regions of the spinal column, and hypoplasia of the distal phalanges of the fingers. The current pregnancy history was negative for exposure to alcohol or drugs. The karyotype was normal. The clinical and radiological features strongly suggest brachytelephalangic chondrodysplasia punctata. Described in males, this condition has not previously been detected in a female; its gene has been assigned to Xp22.3. The present observation of brachytelephalangic chondrodysplasia punctata in a female questions the genetic heterogeneity of this syndrome.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

The rare skeletal disorder, acromesomelic dwarfism, is characterized by short stature and short limbs. Bone dysplasia is evident. We report two cases of a variation of this disorder in a Portuguese woman and her son. The clinical features of these two cases differ from those of cases previously reported in the literature.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

The clinical features of seven children with myositis ossificans (circumscripta and progressiva) and radiographic signs of the disease are described. We recommend systematic radiological examination to seek other skeletal malformations for congenital hallux valgus in young children, for it may be the first sign of a myositis ossificans progressiva. The “zone phenomenon” observed on histology, along with differential diagnosis and evolution, is documented. The necessity of a biopsy and different forms of treatment are discussed.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

The procedure for femoral callotasis is explained, and a series of 160 lengthenings is reviewed, 60 for limb length discrepancy and 100 for short stature. Callotasis was performed in 106 subjects with a mean age of 19 years. The mean healing index (HI) of 36 days per centimeter is related more to etiology than to age or extent of lengthening. There were nine complications (15%) among subjects treated for limb discrepancies and 39 (39%) in those treated for short stature. Three permanent sequelae were recorded: necrosis of the head of the femur (two cases) and permanent extension deficit of the knee (one case). The present review assesses the type of results that can be achieved with callotasis in straightforward cases of femoral lengthening when the guidelines proposed by the author are followed. It does not attempt to compare this technique with other methods of limb lengthening.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

Ultrasound images of dysplastic and/or unstable hips often display an indentation or notch at the superolateral part of the acetabulum where the iliac wing joins the acetabular roof. We reviewed the ultrasound and subsequent radiographic examinations of 295 babies examined in our hip screening clinic. Of the hips with a notch demonstrable at the first ultrasound, 97% had a persistent notch at the second ultrasound and in 79% the notch was apparent on the 3-month radiograph. When the notch persists, we believe that it represents damage to the lateral acetabular ring epiphysis and delayed maturation of the lateral acetabulum.

ISSN:0271-6798    

出版商:OVID    

年代:1997

数据来源: OVID