Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of ...

Angel-shaped phalango-epiphyseal dysplasia is characterized by the angel shape of the middle phalanx and severe coxarthrosis in adult life. This osteochondrodysplasia shows a further variety of heterogeneous multiple epiphyseal dysplasias. It also shows a late and dysplastic development of the femoral head that leads to osteoarthrotic changes with severe hip ...

Adamantinoma of the long bones is a rare, low-grade malignancy with a marked predilection for the tibia and is usually seen in patients during the second to fifth decades of life. Adamantinomas have also been reported in children, but the histological pattern in this age group is different from that ...

Fibrous dysplasia is a developmental disorder caused by abnormal proliferation and maturation of fibroblasts resulting in replacement of mature bone by structurally weak, immature woven bone. Clival involvement in monostotic fibrous dysplasia is extremely unusual, and has rarely been reported previously. We report a case of monostotic fibrous dysplasia of ...

In acetabular dysplasia, an overloading of the acetabular rim can cause a stress fracture, creating an 'os acetabuli', or a lesion of the acetabular labrum. At puberty, the os acetabuli seems to be the epiphysis of the os pubis. We present the case of a 14-year-old girl with acetabular dysplasia ...

OBJECTIVE AND IMPORTANCE: Fibrous dysplasia of the cranium is a relatively uncommon disorder that affects primarily the anterior cranial region; its occurrence in the cranial base in combination with aneurysmal bone cyst (ABC) constitutes an extremely rare condition, only two cases of which have been reported previously in the literature. ...

PURPOSE: To report a case of bilateral panuveitis in a patient with hypohidrotic ectodermal dysplasia. DESIGN: Interventional case report. METHODS: A 6-year-old African-American boy with hypohidrotic ectodermal dysplasia presented with pain, photophobia, and decreased vision in both eyes. RESULTS: Findings included severe bilateral panuveitis with optic disk edema, macular epiretinal ...

Generalized pulpal calcifications arouse suspicion of diseases or conditions of systemic or hereditary origin. This case report describes a 45-year-old patient with generalized pulpal calcifications and bulging of the roots in areas corresponding to the pulp chambers in otherwise normal teeth. Similar findings were present in the patient's daughters and ...

The purposes of this study were to evaluate the results of the operative treatment of lateral ray polydactyly and to consider appropriate surgical procedures, especially focusing on the selection of the toe, lateral toe or medial toe, to be resected. Twenty-two patients with lateral ray polydactyly foot (25 individual feet) ...

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with ...

We report a case of cemento-ossifying fibroma (COF) involving the maxillary and sphenoid sinuses and review the literature in order to study the clinical features, imaging findings and histopathologic characteristics of COF. Special care was taken to distinguish this lesion from cemento-osseous dysplasia (COD). It is almost inevitable that differential ...

Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our ...

AIMS: To describe the clinical and histological features of a series of cases of placentas originally diagnosed as partial moles in which the final diagnosis was that of placental stem villous hydrops, mesenchymal dysplasia or Beckwith-Wiedemann syndrome. METHODS AND RESULTS: We searched a computerized database containing cases of suspected or ...

OBJECTIVES: To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom. STUDY DESIGN: Retrospective case review. PATIENTS: Two cases of cleidocranial dysplasia, a rare autosomal dominant skeletal dysplasia affecting both membranous and enchondral bone formation. SETTING: Tertiary referral center. INTERVENTIONS: Clinical, audiometric, and imaging ...

A 14 year old boy with proximal focal femoral deficiency (PFFD) on left side, contralateral hip dysplasia in association with ulnar hypoplasia and cleft hand was seen our clinic one year ago. From our research, despite it is atypical presentation, this case in a broad context conforms with the femoral-fibula-ulna ...

In approximately 25% of patients with hereditary multiple exostosis, there is an abnormal osteochondral formation localized in the femoral proximal metaphysis. This formation often causes a mechanically progressive insufficiency of the acetabular cavity, a true developmental hip dysplasia, that together with a coxa valga deformity, which is also present, causes ...

We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormalities - mild platyspondyly, hypoplastic ilia, broad proximal femora with prominent lesser trochanters, mild brachymetacarpalia and, most importantly, rhizomelic shortening of ...

Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal dysplasia. Including the three presented patients and 10 of the 36 cases in ...

We present the case of a 9 months old boy with an X-linked form of anhidrotic (hypohidrotic) ectodermal dysplasia. Several chest X-rays had been performed to rule out pneumonia because of recurrent episodes of high fever. The child's lack of tooth buds (hypodontia), which could be encountered on the margins ...

We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the ...

In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, ...

Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient ...

Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 ...

BACKGROUND: Suprabasal expression of Ki-67 is assessed as a marker for oral dysplasia. The study involved non-neoplastic epithelium adjacent to 74 oral squamous cell carcinomas. METHODS: An immunohistochemical technique was carried out (peroxidase-antiperoxidase) with the monoclonal antibody MIB-1. Epithelial expression of Ki-67 was classified as being absent, basal, and suprabasal. ...

Three cases of acetabular dysplasia associated with failed ossification of the ischiopubic synchondrosis are presented. The patients are second-degree relatives and all skeletally mature with no evidence of other pathological process to delay ossification. A summary of the development of the inferior pubic ramus is presented and the literature of ...

Erdheim-Chester disease is a rare systemic lipogranulomatous disorder of adults that shares some histopathologic features similar to Langerhans' cell histiocytosis and that results in characteristic radiographic changes in the long bones. Relatively few cases have been reported in the jaws. We present a literature review of jaw cases and the ...

Frontonasal dysplasia is defined as hypertelorism, telecanthus and broad bridge of the nose with absent or bifid tip of the nose. The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate are discussed. ...

The case of a 27-year-old female patient with tricho-rhino-phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth ...

Hereditary gingival fibromatosis is a proliferative fibrous lesion of the gingival tissue that causes esthetic and functional problems. Both genetically and pharmacologically induced forms of gingival fibromatosis exist. This paper reports a case of severe generalized hereditary gingival fibromatosis in a 5-year-old girl. Treatment consisted of surgical removal of the ...

We report a case of sigmoid perforation, peritonitis, and adult respiratory distress syndrome after a loop excision procedure for carcinoma in situ of the cervix and dysplasia of the vagina. Treatment of vaginal dysplasia with loop excision is potentially dangerous. Safer methods of management include carbon dioxide laser, topical 5-fluorouracil, ...

Hypohidrotic ectodermal dysplasia was first described by Thurnam in 1848. It is a rare, X-linked, recessive disorder characterized by anhidrosis or hypohidrosis, hypotrichosis, dental hypoplasia and characteristic facial features. Herein, we report a typical case of hypohidrotic ectodermal dysplasia. A 20-year-old male presented with the above symptoms at birth. When ...

The authors present a case of visual loss associated with fibrous dysplasia of the anterior skull base and the surgical management of this case. Preoperative computerized tomography scanning in this patient demonstrated a patent optic foramen and a rapidly growing cystic mass within the orbit, which was responsible for the ...

Monostotic fibrous dysplasia of the spine is rare. We report its clinical, radiologic and histologic features affecting a 47-year-old housewife. She presented with low-back pain of 1-year's duration, and radiographs showed a diffuse expansile lesion in the left transverse process of the fourth lumbar vertebra. The lesion was excised and ...

PURPOSE: To report the use of excimer laser phototherapeutic keratectomy (PTK) in the treatment of corneal subepithelial nodular scarring in a child with Rothmund-Thomson syndrome (RTS), a form of ectodermal dysplasia. METHODS: A case report and review of the literature. RESULTS: Excimer laser PTK successfully treated the recurrent anterior stromal ...

Juvenile ossifying fibroma (JOF) is a well-defined clinical and histological entity that has recently been separated from other fibro-osseous lesions, including cemento-ossifying fibromas. Its biological behaviour is well defined, but unexplained. Its behaviour, clinical and histological appearance, however, bears resemblance to osteofibrous dysplasia of long bones, a lesion that in ...

Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. ...

Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. Histologically, the features of these bone lesions sometimes look quite similar, but their precise nature remains controversial. We retrospectively studied clinicopathologic findings in 62 cases of fibrous dysplasia and ...

Congenital absence of portal vein (CAPV) is a rare malformation. To our knowledge, sixteen cases are reported in western literature. All the cases are associated with other diseases, cardiac malformations (12/17 patients; 16 plus the present case) and hepatic neoplasms being the most frequent observations. We present the case of ...

A case presented here is that of a nine year old male patient with total anodontia. Findings of this case as regards to the orofacial, radiographic and other general manifestations were suggestive of hypohidrotic ectodermal dysplasia. The dental problems were best managed by prosthetic replacement of dentition taking into consideration ...

A severe malformation of the inner ear, often referred to as severe labyrinthine dysplasia or common cavity deformity, consists of an absent or dilated cochlear basal coil, wide communication with the vestibule and a tapered internal acoustic meatus and can be associated with absent hearing. We discuss two children with ...

OBJECTIVE: To compare the radiographic presentation of fibrous dysplasia in the jaws of Hong Kong patients with the features reported in other populations. METHODS: The clinical records and radiographs were reviewed of seven patients with fibrous dysplasia whose diagnosis had been histopathologically confirmed. Published series of fibrous dysplasia were subjected ...

A new case with the typical features of progeria (Hutchinson-Gilford) occurred in India. Histopathology of the skin showed atrophic epidermis and diffuse fibrosis of dermis with loss of appendages. Roentgenographic findings were characteristic of progeria. The child also had a gangrenous ulcer over the left foot, a finding not highlighted ...

Dentinal dysplasia type I (DDI) is a rare disturbance in dentin formation. This case report illustrates different radiographic features from other reported DDI cases in that only one quadrant (lower right posterior teeth) has the characteristic of DDI and both right and left upper molars exhibit taurodontism. This finding might ...

Fibromuscular dysplasia of the carotid artery is uncommon, but not rare. Although the true incidence and prevalence of the disease are not known, reported figures in adults range between 0.6% by angiography and 1.1% at autopsy. Most case reports of stroke caused by carotid fibromuscular dysplasia describe findings in adult ...

Subchorionic vascular aneurysms of the placenta are rare lesions and may present confusion with chorioangioma or focal mesenchymal dysplasia on sonography. To our knowledge, the findings of placental aneurysms have not been reported in the ultrasound literature. We present a case with detailed sonographic evaluation, including spectral and color Doppler ...

Two additional cases of femoral fibrocartilaginous dysplasia are reported. The condition produces such significant angulation of the articular surfaces of the knee that progressive deformity is of concern to parents and surgeon alike. In both the reported cases, corrective distal femoral osteotomy confirmed the histologic diagnosis and ensured satisfactory gait ...

We report a rare case of dysplasia epiphysealis hemimelica (DEH) in the wrist of a 7-year-old boy. Clinical, radiological and histopathological manifestations are discussed. The correct diagnosis of DEH, however, was made by the confrontation of the radiological and pathological data. The radiologist should inform the pathologist correctly about the ...

The authors present a case of periapical cemental dysplasia affecting the mandibular left canine, with vital pulp, in a 43-year-old black female patient, an occurrence that follows the classical cases found in the literature. The need of a careful history, clinical and radiographic exams and vitality tests are emphasized in ...

A case report on dentin dysplasia type I, a congenital disease (autosomal dominant gene defect) affecting deciduous and permanent teeth, is depicted including representations of clinical and histological features, X-ray and CT-findings. Therapy includes extraction of all teeth, ectomization of cystic alteration, revision of paranasal sinus. Aesthetic and functional rehabilitation ...

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 ...