A case of osteofibrous dysplasia (OFD) of the tibia with 10 years of follow-up is presented. Spontaneous healing of this lesion occurred without any surgical intervention at the age of 10 years. The diagnosis was made retrospectively on the basis of clinical and radiographic appearance and evolution. The capricious nature ...

Isolated presentation of fibrous dysplasia or primary hyperparathyroidism is a common finding. Only few cases of craniofacial dysplasia associated with hyperparathyroidism have been reported in the literature. A case of a patient with fibrous dysplasia of craniofacial bones associated with primary hyperparathyroidism without additional endocrinophaties or associated disorders, will be ...

A 40-year-old white man with a 3-year history of mild to severe right thigh and knee pain was referred for radiographic investigation. Radiographs show a fusiform, bilaterally symmetrical enlargement of the diaphyses and metaphyses of the long bones (femur, tibia, fibula, radius and ulna). A narrowed medullary cavity is illustrated ...

The authors reviewed 15 new cases of fibrous dysplasia of the jaw bone and two cases of recurrence seen in Jamaica between 1980 and 1995. Only cases which had a histological confirmation of fibrous dysplasia were included. The clinical behaviour and radiological findings of these cases were studied from the ...

The platyspondylic lethal skeletal dysplasias (PLSD) are a group of heterogeneous disorders including thanatophoric dysplasia (TD) and the TD variants (San Diego, Torrance, and Luton types). TD is the most common form and has been divided into two subtypes (TD1 and TD2) based on clinical and radiologic criteria and analysis ...

We report a case of an incidental finding of glycogenic acanthosis of the larynx on autopsy in a 79-year-old man who died of myocardial infarction. The lesion was grossly recognized as a white plaque (leukoplakia) on the subglottic compartment of the left side of the larynx. Histological sections revealed thickened ...

Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct ...

Evoked otoacoustic emissions are well established as a hearing screening technique and are used extensively in paediatric audiology. They are believed to originate from the outer hair cells and can be detected in almost 100% of normally hearing ears; even a mild hearing loss has been shown to abolish otoacoustic ...

We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests ...

Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in ...

A case of Ellis van Creveld syndrome is described in which, in addition to all the major features constituting the tetrad of chondroectodermal dysplasia, there was (unusually) bipedal hexadactyly. As well as the frequently reported oral anomalies, this case exhibited taurodontism of permanent and some primary molars, a finding rarely ...

Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old ...

Over 1 year of ultrasound (US) mass screening, 4,568 newborns were examined consecutively at age 3-4 weeks using both clinical and ultrasonographic examination methods. The US examination involved both the static and dynamic scanning. In total, 25 babies were treated early (5.5 per 1,000), and 6 babies were given late ...

We describe a case of a male infant with a scaphoid megalourethra. A physical examination showed a large, flabby phallus with bilateral undescended testes. The corpus spongiosum was absent with normal corpora cavernosa. Urethrography showed a crescent-shaped dilatation of the anterior urethra. Further examination revealed an association with concomitant urogenital ...

A child with cystic dysplasia of the testis (CDT) that presented as a solid mass by ultrasound imaging is reported. The child also had ipsilateral multicystic dysplasia of the kidney (MCDK). A search of the literature revealed that unilateral renal agenesis (URA) is commonly associated with CDT. It is possible ...

In this paper we report a 7-month-old boy with lobar holoprosencephaly in whom midline interhemispheric fusion occurred between thickened gyri cinguli of both hemispheres at the middle frontal region. This anomaly appears to be a variation of a recently recognized type of holoprosencephaly associated with midline interhemispheric fusion and atypical ...

Lethal hypophosphatasia, spur type: case report and fetopathological study: Hypophosphatasia (HP) is characterised by severe undermineralisation of the skeleton owing to deficiency of tissue nonspecific alkaline phosphatase. Clinically a perinatal, infantile, childhood and adult type is distinguished. Clinical signs in the perinatal type of HP show considerable overlap with other ...

Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay. Merosin-deficient CMD is a clinically distinct form which may be associated with significant abnormalities of the ...

An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a ...

Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the ...

We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations ...

Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so ...

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, ...

PURPOSE: Cystic dysplasia of the rete testis is a benign congenital lesion that can mimic testicular cancer. We report 6 cases, review the literature, discuss the embryological etiology and make management recommendations. MATERIALS AND METHODS: The records and pathology reports of 6 boys presenting with cystic dysplasia of the rete ...

BACKGROUND: When biopsy specimens lack a "swarm of bees" peribulbar lymphoid infiltrate, the diagnosis of alopecia areata depends on the recognition of other histologic features of the disease. OBJECTIVE: Our objective was to determine the frequency of the presence of eosinophils in biopsy specimens of alopecia area'a in relation to ...

We report an adult male patient born to normal and non-consanguineous parents with midline craniofacial defects associated with branchial arch anomalies. This combination of signs belongs to the oculoauriculofrontonasal spectrum. We compare our case with those previously reported who had similar findings and discuss clinical aspects of the oculoauriculofrontonasal spectrum ...

Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. Since new traits were encountered, we ...

Intravascular fasciitis is a rare benign condition characterized by reactive fibroblastic proliferation arising from the superficial or deep fascia and involving arteries and/or veins. Intravascular fasciitis is a distinct variant of a more common condition called nodular or pseudosarcomatous fasciitis, which possesses clinical and histologic features similar but lacks vascular ...

This report presents a case of calcifying fibrous pseudotumor arising in the posterior mediastinum of a 54-year-old woman. The histopathologic features of this case were identical to that of calcifying fibrous pseudotumor first designated in 1993. It is a distinctive benign fibrous lesion characterized by the presence of characteristics psammomatous ...

Plasmacytoma of the jaw bones and oral cavity, as in other anatomic sites, comprises three distinct entities: multiple myeloma, solitary plasmacytoma of bone, and extramedullary plasmacytoma. This article is a retrospective study of 13 cases; 9 occurred in the mandible and 4 in the maxilla. The most common radiographic finding ...

Retinoids, a family of molecules capable of profound impact on many biological functions, have antiproliferative, differentiative, and immunomodulatory properties. The present study assessed the effect of 13-cis-retinoic acid (13-CRA) treatment in 13 chronic cervicitis and 52 cervical intraepithelial neoplasia patients. We examined low- and high-risk human papilloma virus titer (using ...

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 ...

Ectodermal dysplasia is a rare group of inherited disorders, transmitted as an X-linked recessive. Patients with ectodermal dysplasia usually exhibit a fine smooth dry skin, with partial or complete absence of sweat glands. The main dental manifestation is hypodontia, which is of variable severity. Peg shaped teeth and reduced vertical ...

Dysplasia epiphysealis hemimelica is a rare developmental disorder affecting one or more epiphyses in a limb or a tarsal or carpal bone. It is due to abnormal cartilage proliferation with subsequent endochondral ossification and generally involves the medial or lateral half of the epiphysis. Our case involved the lateral aspect ...

Hyperkeratosis of the nipple and areola is a rare condition; its characteristic properties are verrucous thickening and brownish discoloration of the nipples and areola. The nevoid form of the disease is extremely rare, usually seen in women in the second or third decade of life. The nipple is seldom affected ...

Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) ...

Pseudomelanosis duodeni is rarely seen in children. It manifests endoscopically as peppery speckles in the duodenal mucosa. This pigment corresponds principally to accumulation of ferrous sulfide in macrophages within the lamina propria. We report the case of a 16-year-old boy with ectodermal dysplasia who underwent renal transplantation for vesicoureteral reflux ...

We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case ...

Dysplasia epiphysealis hemimelica is a rare developmental abnormality involving aberrant epiphyseal cartilage growth. This is the first known case report describing dysplasia epiphysealis hemimelica arising from the sacroiliac joint. The operative technique described through an indirect computed tomography guided approach limited the exposure and potential morbidity involving the sacroiliac joint.

Cemento-osseous dysplasia is a fairly common lesion of the jaws originating from the elements of the periodontal ligament. Most lesions do not have a hereditary basis, however a few familial cases have been documented. This is the first report of the florid form of cemento-osseous dysplasia in an African family. ...

We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a "monkey wrench" appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and ...

Ectodermal dysplasia is commonly a difficult condition to manage with prosthodontics because of the typical oral deficiencies and because the afflicted individuals are quite young when they are evaluated for treatment. It is important that these individuals receive dental treatment at an early age for physiologic and psychosocial reasons. This ...

Despite expanding knowledge and technological advances there are patients whose diagnosis remains unknown, either due to failure to recognize previously reported cases, or because the patient represents an undescribed condition. The woman described in this paper has distinctive clinical signs and it is hoped this will lead to the rediscovery ...

Fibro-osseous dysplasia is a developmental non familial, benign anomaly of bone development occurring in single or multiple bones, characterised by the replacement of normal bone by fibro-osseous tissue. We describe the case of a fourteen year old boy, which illustrates many of the difficulties confronting surgeons dealing with this uncommon ...

In Africa endomyocardial fibrosis (EMF) is rare outside countries where it is endemic, such as Uganda, Mozambique and Ivory Coast. The only published case in Zimbabwe was in 1957. We describe two female patients aged 22 and 19 years who presented within seven months of each other with typical clinical, ...

Often misdiagnosed, congenital malalignment of the big toenail is not an uncommon condition. It consists of a lateral deviation of the long axis of nail growth relative to the distal phalanx. This would be of minor importance if it were not for local complications that may arise in infancy and ...

We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the ...

A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem radiographic and histological examinations. A review of the current ...

Most ethicists have paid little attention to the rhetorical features of case presentations. In order to examine the constructed nature of bioethics cases, this paper examines the literary characteristics of four presentations of Donald "Dax" Cowart's story. By comparing tellings of the same case, a pattern of redaction is revealed ...

A case of recurring digital fibroma of childhood is presented. The natural history of this condition over several years is documented. The literature is reviewed, with particular reference to the management of the condition. Surgeons should be aware of the clinical features and the principles of management of this condition, ...