The purpose of this study is to present an unusual case of cervical instability in a girl with Hajdu-Cheney syndrome. [ncbi.nlm.nih.gov]

We present a case of a woman with primary acro-osteolysis and symmetric polyarthritis similar to rheumatoid arthritis. [dialnet.unirioja.es]

This presentation aroused our suspicion that similar diseases might exist among vinyl chloride workers in Japan. [jstage.jst.go.jp]

• Recurrent Infection

  However, renal abnormalities tend to predominate during infancy, and multiple fractures and recurrent infections in early childhood, while neurological symptoms and joint abnormalities are usually manifestations of adulthood (Brennan and Pauli 2001). [rrnursingschool.biz]

• Heart Disease

  Hadju Cheney syndrome Calcification Ductus arteriosus Heart disease Corrective surgery Complication Congenital Child Idiopathic Ligature Osteolysis Pediatrics Radiography Complex syndrome Diseases of the osteoarticular system Classification Pascal 002 [pascal-francis.inist.fr]

  Radiologically there are two patterns, one characterized by new bone formation which predominates in patients with pulmonary disease, and another by acro-osteolysis that is most frequently associated with congenital heart disease. [semanticscholar.org]

  Affected individuals may present with congenital heart disease, as well as respiratory, renal and digestive tract malformations, and umbilical hernia in the first months of life. [orpha.net]

• Low Set Ears

  This can cause birth defects such as skull deformities, cleft lip, low set ears, bushy eyebrows, and down slanted eyes. [diseaseinfosearch.org]

  A physical examination showed the following dysmorphic features: dense eyebrows and eyelashes, downward slanting palpebral fissures, a long philtrum, low set ears, a small, receding lower jaw and a deep, low voice. [qjmed.oxfordjournals.org]

  Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears, long philtrum, micrognathia with highly arched palate or cleft palate, and short [orpha.net]

  The face is dysmorphic with prominent maxilla, small mandible with diminished ramus, broad nose, low-set ears with prominent lobes, hypertelorism, and downward sloping eyes with narrow palpebral fissures (O'Reilly and Shaw 1994). [rrnursingschool.biz]

• Skin Ulcer

  We report a case in a 13-year-old girl with a 2-year history of swelling and skin ulcers of the second and third left fingers and second right finger. The fingers were abnormally short and the nails were hypertrophic. [ncbi.nlm.nih.gov]

  Scleroderma-like skin plaques, soft tissue nodules, hyperhidrosis, skin discoloration, and carpal tunnel syndrome are additional clinical manifestations (Sadick 1976). [rrnursingschool.biz]

• Erythema

  […] or papules on the face considered classic for sarcoid May occasionally be presenting manifestation of sarcoid Clinical Findings Frequently asymptomatic Joint manifestations include Stiffness Pain Soft tissue swelling Soft tissue nodules (granulomas) Erythema [learningradiology.com]

  Signs and symptoms, 215 Diagnosis, 215 Treatment, 216 Illustration (Fig. 7.7), 216 Mucocutaneous neuromas, 217 Definition, 217 Etiology, 217 Signs and symptoms, 217 Diagnosis, 217 Treatment, 217 Illustrations (Figs 7.8 & 7.9), 218 Necrolytic migratory erythema [euro-libris.ro]

• Hirsutism

  Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]

• Bone Disorder

  The book details the pathologic and radiologic characteristics of all bone and joint diseases, including arthritis, metastatic bone disease, osteoporosis, trauma, osteomyelitis, developmental bone disorders, and tumor-like lesions. [books.google.com]

  In the second decade of life, a progressive bone disorder occurred, initially in the form of acro-osteolysis within the distal phalanges of the hands and feet. [qjmed.oxfordjournals.org]

  Pycnodysostosis is a rare autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis with fragile bones. [contempclindent.org]

  disorders, 129 Definition, 129 Osteopetrosis, 129 Etiology, 129 Signs and symptoms, 129 Diagnosis, 130 Treatment, 130 Illustrations (Figs 5.48–5.51), 131 Pycnodysostosis, 132 Etiology, 132 Signs and symptoms, 132 Diagnosis, 132 Treatment, 132 Illustrations [euro-libris.ro]

• Osteopenia

  Radiology of Hyperparathyroidism Osteopenia and bone demineralization are present in all forms of hyperparathyroidism Subperiosteal resorption is virtually pathognomonic for hyperparathyroidism and is typically seen at the radial aspect of the middle [uwmsk.org]

  Hajdu Cheney mouse mutants exhibit osteopenia, increased osteoclastogenesis, and bone resorption. J Biol Chem. 2016;291:1538-1551. https://www.ncbi.nlm.nih.gov/pubmed/26627824 Deprouw C, Feydy A, Giraudet Le Quintrec JS, et al. [rarediseases.org]

  Disease Comments More Common Hyperparathyroidism ( Fig. 18-1 ) ( p. 928 ) Overproduction of parathormone resulting from primary or secondary factors affecting the parathyroid glands; the disease is marked by osteopenia, osteosclerosis, bone resorption [radiologykey.com]

• Muscle Weakness

  We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial [ncbi.nlm.nih.gov]

  […] irregular appearance of the epiphysis; these variants may mimic osteonecrosis Rickets ( Fig. 18-14 ) ( p. 944 ) Infantile or juvenile osteomalacia secondary to vitamin D deficiency, characterized clinically by irritability, listlessness, and generalized muscle [radiologykey.com]

• Disorder of Digit

  A Raynaud phenomenon-like disorder, with digital pain, numbness, and itching, is usually a premonitory sign indi cating that alterations in bone will probably ensue. Changes in the fingers and nails are usually apparent. [rrnursingschool.biz]

• Brachydactyly

  Brachydactyly, digital contractures and progressive deformities can occur as late manifestations. This section summarizes the clinical and radiographic characteristics of some of these disorders with multiple phalangeal tuft involvement. [rrnursingschool.biz]

• Prominent Occiput

  Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears, long philtrum, micrognathia with highly arched palate or cleft palate, and short [orpha.net]

• Amenorrhea

  Etiology, 181 Signs and symptoms, 181 Diagnosis, 181 Treatment, 182 Illustrations (Figs 6.26–6.30), 183–187 Ovarian cysts, 188 Definition, 188 Etiology, 188 Signs and symptoms, 188 Diagnosis, 188 Treatment, 189 Illustrations (Figs 6.31–6.35), 189–193 Amenorrhea [euro-libris.ro]

• Increased Bone Density

  Differential diagnosis Differential diagnoses may include pycnodysostosis and Hutchinson-Gilford progeria syndrome (see these terms) based on clinical and x-ray findings, however, patients lack premature aging seen in progeria and increased bone density [orpha.net]

  In addition, the greater bone density increases the probability. [contempclindent.org]

Neutrophilic chemotaxis, evaluated before starting the treatment and after 15 and 30 days of therapy, showed a progressive decrease of the initial very high index. [ncbi.nlm.nih.gov]

Gland, 22 Craniopharyngioma, 22 Definition, 22 Etiology, 22 Signs and symptoms, 22 Diagnosis, 22 Treatment, 22 Illustrations (Figs 2.1–2.3), 23 Hypothalamic dysgerminoma, 24 Definition, 24 Etiology, 24 Signs and symptoms, 24 Diagnosis, 24 Treatment, [euro-libris.ro]

These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass. [diseaseinfosearch.org]

Management and treatment No treatment exists for AOD, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide. Prognosis Patients have a normal life expectancy. [orpha.net]

Chronic osseous involvement is usually associated with diseases of other organs and has a poor prognosis Sarcoid of feet. [learningradiology.com]

In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis [ edit ] Depends on the type and degree of systemic sclerosis. There is no cure for scleroderma and most people die from involvement of the heart, lungs and/or kidney. [en.wikibooks.org]

(de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis, [euro-libris.ro]

Depending on the etiology, the serum calcium may be elevated and phosphate may be decreased. [uwmsk.org]

Idiopathic non-familial variant is of unknown etiology and usually affects fingers and is progressive. Hereditary causes of acroosteolysis follow an autosomal dominant or recessive pattern of inheritance and distal phalanges are primarily affected. [bone-abstracts.org]

A wide range of congenital and acquired etiologies are responsible. Swelling or atrophy of the overlying soft tissues may be present. [radiologykey.com]

Etiologic and radiological considerations. JAMA 1986;255:2058-61. Avouac J, Guerini H, Wipff J, et al. Radiological hand involvement in systemic sclerosis. Ann Rheum Dis 2006;65:1088-92. [nzma.org.nz]

Epidemiologic, pathogenetic and radiological aspects of occupational acroosteolysis are briefly reviewed. [ncbi.nlm.nih.gov]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum. [orpha.net]

The pathophysiology of the disease is unknown, but obstructive lesions of small peripheral arteries are thought to cause osteolysis of the distal phalanges of the fingers. Copyright © 1978 by The Journal of Bone and Joint Surgery, Incorporated [journals.lww.com]

The pathophysiology of the disease is not known. [rrnursingschool.biz]

Clarke LA, Hollak CE (2015) The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab 29(2):219–235 PubMed CrossRef Google Scholar 50. [link.springer.com]

Diagnosis, 77 Treatment, 77 Illustrations (Figs 4.1–4.5), 77–79 Skin diseases associated with diabetes, 80 Definition, 80 Etiology, 80 Signs and symptoms, 80 Diagnosis, 80 Treatment, 80 Illustrations (Figs 4.6 & 4.7), 80–81 Diabetic foot, 81 Definition, 81 Pathophysiology [euro-libris.ro]

These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass. [diseaseinfosearch.org]

In some cases, your doctor may prescribe medicines to prevent osteoporosis. [icdlist.com]

In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

When the condition is discovered, amputation may need to be performed in order to prevent the spread of tissue necrosis and painful ulceration on the affected digits. [wisegeek.com]

To prevent oral complications, maintenance of proper oral hygiene and regular dental visits is very important. Tooth extraction and other surgeries should be done carefully to prevent postextraction osteomyelitis. [contempclindent.org]