This is a report on two cases of mesomelic dysplasia Langer type. This is a rare kind of dwarfism which combines severe dwarfism with predominant shortening of the forearms and lower legs and other morphological abnormalities. The diagnosis can be made by ultrasonography in the early second trimester of the ...

This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in ...

Although large studies on sex chromosome abnormalities have not detected a higher incidence of malformations in 47,XYY males, several case reports suggest that there is an association between renal agenesis or cystic dysplasia of the kidney and XYY status. The authors report 3 further infants with XYY karyotype who had ...

OBJECTIVES: To report the radiological features of florid osseous dysplasia (FOD) in a Chinese population. METHODS: Twenty-three cases of histologically confirmed FOD affecting middle-aged Hong Kong Chinese women were reviewed. RESULTS: Sixteen patients presented with symptoms arising from the lesions. Twelve cases exhibited bilateral lesions, five were in both the ...

The authors report the case of bilateral gonadoblastomas in a phenotypic female, with a 46,XY karyotype, with campomelic dysplasia. Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma. Phenotypic females ...

Autopsy records from the Women and Infants' Hospital from January 1974 through January 1994 were reviewed to identify cardiac malformations in the presence of skeletal dysplasia. Of 24 cases of lethal fetal or neonatal osteochondrodysplasias, 4 were given diagnoses in which disorders of type II collagen are regarded as causative. ...

Twenty-four cases of EEC syndrome were identified as part of a nationwide study. Ectodermal dysplasia, by study definition, was present in all cases and hair and teeth were universally affected. Nail dysplasia was present in 19 subjects (79%) and the skin was affected in 21 (87%). The presence of hypohidrosis ...

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which ...

We report a 5-year-old girl with partial anodontia, hypotrichosis, hyperpigmentation of the skin, absence of pilosebaceous structures, and long thin fingers. There has as yet been, to the best of our knowledge, no report of such a combination of features. A review of conditions combining ectodermal dysplasia (subgroup 1-2) with ...

In the preceding paragraphs, the features that define the various members of the CMPD have been reviewed. These features are summarized in Table 4. Knowledge of these guidelines will aid the clinician and pathologist in arriving at a proper classification; however, in most cases, it is the occasional patient whose ...

Two cases of gender-dysphoric genetic females who describe a sexual attraction to phenotypic males are reported. After outlining their individual histories, the authors note common clinical features of this subtype of transsexualism. Similar characteristics have also been found in the few cases of heterosexual transsexualism in genetic females reported by ...

Gastric dysplasia (high-grade, HGD, and low-grade, LGD) and normal mucosa were tested for anti-p53, anti-Ki-67 and anti-PCNA monoclonal antibodies on paraffin sections, and for relative AgNOR area and number on semithin Epon-Araldite sections. The proliferative compartment in normal mucosa was restricted to the middle layer corresponding to the neck-isthmus region. ...

Fibrous dysplasia is a benign fibro-osseous disorder that often affects both the maxilla and mandible. The dentist, therefore, is often the first person to identify and diagnose the disease. This article focuses on the pathology, diagnosis, clinical course, and treatment of this complex problem. A case report demonstrates the multidisciplinary ...

The craniocervical junction, a vital but anatomically complex region, presents additional interpretative challenges in patients with skeletal dysplasias and other syndromes involving the musculoskeletal apparatus. Our objective was to review the radiological evaluation used in such conditions; to do so, we identified retrospectively all of the occipitocervical studies done during ...

A fibrosarcoma is reported in the spine of a 53-year-old man with polyostotic fibrous dysplasia. There was no history of endocrine disturbances and no previous irradiation. Malignant transformation in fibrous dysplasia is rare. A review of the literature reveals 101 cases of malignant degeneration occurring in fibrous dysplasia. We believe ...

A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.

Between 1988 and 1992, 18 mechanically ventilated newborn babies (mean weight 1300 g and gestational age 30 weeks) presented with deteriorating respiratory failure at a mean age of 29 days. All developed increased oxygen requirements, hypoxic and hypercapnic episodes, and radiological changes of fixed lobar emphysema or recurrent atelectasis which ...

Craniofrontonasal dysplasia: more severe expression in the mother than in her son: We report a family with craniofrontonasal dysplasia in a mother and her son. In addition to the typical clinical features, the present case report further illustrates two sofar unexplained observations in craniofrontonasal dysplasia: a more severe clinical expression ...

We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described in ...

Here we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have ...

We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by ...

Human papillomavirus has been identified with DNA hybridization techniques in Schneiderian papillomas, though results reported in the literature have been conflicting. This study investigated 33 cases of Schneiderian papilloma (26 inverted papillomas, seven fungiform papillomas). In situ hybridization using a cocktail of human papillomavirus (HPV) probes 6/11, 16/18, 31/33/35 failed ...

We present a case of gonadotrophin-independent precocious puberty, as seen in McCune-Albright syndrome, and Leri-Weill dyschondrosteosis in a six and a half year-old girl. Her father also reports having early puberty and is similarly affected with dyschondrosteosis. This combination of features has not been reported previously, and represents the association ...

We have studied the subcommissural organ of two hydrocephalic brains, of 20 and 21 gestational weeks and of two normal brains, aged 19 and 23 gestational weeks. Both hydrocephalic cases presented a size reduction of the subcommissural organ compared to the normal cases; only in one case, there were also ...

Rhinophyma may present with either of two distinct histopathologic appearances. The most common shows histopathologic features of rosacea. The second pattern shows telangiectasia, diffuse dermal fibrosis with abundant mucin, and a virtual absence of pilosebaceous structures. These histopathologic features of the lesser-known fibrous variant of rhinophyma mimic those of fibrous ...

Roberts syndrome is a rare autosomal recessive disorder with highly variable clinical features. The most notable manifestations include pre- and postnatal growth retardation, craniofacial anomalies and improper development of all four extremities. We reviewed 50 cases whose clinical evaluation has been vigorously pursued. A relationship of deformities exists between humerus ...

Renal agenesis and dysplasia are frequently regarded by pathologists, even pediatric pathologists, as sporadic malformations. We report six fetal autopsy cases of hereditary renal adysplasia (HRA): two pairs of siblings, one case with paternal unilateral renal agenesis, and one case with an autosomal balanced 6p/19q translocation. The main purpose of ...

Congenital glenoid dysplasia is a rare congenital condition of the shoulder. We report the case of a 6-year-old girl that was referred to our institution for restricted motion of both shoulders. Radiological examination revealed bilateral glenoid dysplasia. At the time of the child's examination, her mother also complained of shoulder ...

Fibrous dysplasia of the temporal bone is a very unusual condition and its association with an abnormal lymph node has not been previously reported. Although it is benign condition causing conductive deafness, cholesteatoma may develop insidiously as illustrated by this case. We recommend regular long term follow up and surgical ...

BACKGROUND: Malignancies in fibrous dysplasia are rare. Most cases have been published as single case reports. The role of radiation therapy in the occurrence of sarcoma in fibrous dysplasia is still controversial. METHODS: The Mayo Clinic files were reviewed, including Mayo Clinic cases and consultation cases, to collect all cases ...

The soft tissue myxoma of the oral cavity is a rare neoplasm. We report a case arising from the palate in a 15-year-old male. A review of the literature is presented with clinicopathologic, immunohistochemical, and ultrastructural data confirming the diagnosis. The pathogenesis and differential diagnosis are discussed with reference to ...

A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% ...

The skeletal dysplasias (osteochondrodysplasias) comprise a heterogeneous group of disorders that are characterized by generalized abnormalities of skeletal growth and development. Of approximately 125 well-described skeletal dysplasias, about 50 are clinically apparent and identifiable at birth. The prevalence of these dysplasias in the newborn is quite frequent and has been ...

The results of a ten-year follow-up study on gastric dysplasia (GD) are reported. A total of 260 cases were diagnosed, 125 of which had an adequate follow-up, 81 Low Grade Dysplasia (LGD) and 44 High Grade Dysplasia (HGD). Patients with LGD were younger than patients with HGD, while no significant ...

Severe unilateral varus deformity of the distal end of the femur secondary to a focal fibrous lesion is reported. It is a malformative process rare at this level, this being the first report of it in the radiological literature. The conventional radiograph is pathognomonic and CT is useful in the ...

Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We ...

Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, but her brother and ...

An association between fibrous dysplasia and myxomas (soft-tissue neoplasms of mesenchymal origin) has been described in the literature. The authors report another such case of fibrous dysplasia/myxoma coexistence: a patient with polyostotic fibrous dysplasia who developed right anterior thigh pain from a solitary intramuscular myxoma. After a thorough review of ...

We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had ...

We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are ...

We report 10 cases of a distinctive benign fibrous lesion characterized by the presence of abundant hyalinized collagen with psammomatous or dystrophic calcifications and a lymphoplasmacytic infiltrate. The lesions were present from 2 months to 10 years before resection and ranged in size from 2.5 to 15 cm. They involved ...

The patient described in this report had an apical radiolucency in the incisor region of the mandible. This had a similar appearance to an extensive periapical granuloma; misdiagnosis might easily have been made, especially since there had been a history of previous trauma to the region. The incisors were found ...

Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in ...

Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. ...

Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial ...

Klippel-Feil syndrome is a clinical triad consisting of short neck, decreased head mobility, and low occipital hairline. Additional deformities of the musculoskeletal and the neural system may also be present. Otological defects occur in about one third of these patients. They are seen either unilaterally or bilaterally and accompanied by ...

We report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior ...

Tibial dysplasia is a rare congenital deformity which must be distinguished from the more common fibular dysplasia. We have reviewed 24 patients with 35 affected legs. The classification system of Kalamchi and Dawe (1985) was found to be preferable to that of Jones, Barnes and Lloyd-Roberts (1978) as a guide ...

A rare case of multicystic dysplasia in half of a horseshoe kidney is presented. Proper evaluation led to a modified surgical approach necessary for adequate exposure, division of the isthmus, and removal of the diseased component. Considerations applicable to the treatment of multicystic dysplasia and renal fusion are discussed. The ...

We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. ...