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Schwartz-Lelek Syndrome

Craniometadiaphyseal dysplasia, wormian bone type


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Hall , 1 author Michael Baraitser Published 1991 in Journal of medical genetics A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities.[semanticscholar.org]
  • Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.[books.google.de]
  • The ANKH gene provides instructions for making a protein present in bone that transports a molecule called pyrophosphate out of cells.[e-aps.org]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • William Osler, Baronet(1849-1919) Canadian physician and FrederickParkes Weber (1863-1962) English physician 注 OslerはJohns Hopkins Hospitalの創設者の一人、 Weber は Weber-Christian disease と同一人 Rett レット Rett's syndrome レット症候群 AndreasRett (1924-1997) Austrian[jams.med.or.jp]
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.es]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Developmental Disabilities
  • Bagatelle Cassidy syndrome 0 *Hearing Loss, Bilateral *Hypertelorism *Limb Deformities, Congenital *Macrocephaly Developmental Disabilities.[reference.md]
Pointed Teeth
  • According to her family history, the patient has one normal brother, two paternal cousins with ocular hypertelorism and one paternal cousin with "pointed teeth".[blackstar.forp.usp.br]
Hepatomegaly
  • See Also Aging & Longevity Welltrients Guide Wellness Fitness (Physical Fitness) Cleanses & Detoxifying Katz Syndrome “Katz Syndrome” In our body, the dis-order, Katz Syndrome is the allopathic name of a shortness of stature , cranial hyperostosis , hepatomegaly[wellnessadvocate.com]
  • […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric age 520 Copyright[books.google.it]
  • Verma-Naumoff type Short rib-polydactyly syndrome Short ribs craniosynostosis polysyndactyly Short s Short stature abnormal skin pigmentation mental retardation Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[wikidoc.org]
  • […] syndrome, Verma-Naumoff type Short ribs craniosynostosis polysyndactyly Short s [ edit ] Short stature abnormal skin pigmentation mental retardation Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[en.wikipedia.org]
  • […] rib-polydactyly syndrome, Verma-Naumoff type Short ribs craniosynostosis polysyndactyly Short s Short stature abnormal skin pigmentation mental retardation Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[sosu.us]
Thrombosis
  • PubMed Heritable alpha 2-macroglobulin deficiency in a patient with arterial thrombosis... Heritable alpha 2-macroglobulin deficiency in a patient with arterial thrombosis: alpha 2-macroglobulin deficiency Irvine.[ncbi.nlm.nih.gov]
  • Etiologies include thrombosis due to infection, DEHYDRATION, coagulation disorders (see THROMBOPHILIA), and CRANIOCEREBRAL TRAUMA.[healthdictionary.info]
  • Hemostasis/Thrombosis CDWG Hereditary Cancer CDWG The Hereditary Cancer Working Group aims to centralize and curate genetic knowledge in order to develop guidance for molecular diagnostic germline cancer testing.[clinicalgenome.org]
  • Portal vein thrombosis Portuguese type amyloidosis Pos–Pox Positive rheumatoid factor polyarthritis Post-polio syndrome Post Traumatic Stress disorder (PTSD) Postaxial polydactyly mental retardation Posterior tibial tendon rupture Posterior urethral[sosu.us]
Low Set Ears
  • Hypertonia Abnormal facial shape Renal hypoplasia/aplasia Full cheeks Long face Neurological speech impairment Protruding ear Macrotia Delayed skeletal maturation Intellectual disability, mild Abnormal renal morphology Tinnitus Cranial nerve compression Low-set[mendelian.co]
  • On clinical examination, there was a presence of ocular hypertelorism, frontal bossing and a wide forehead, parietal protuberance, widening of the nasal ridge with an apparently small nose and in a saddle ( Figure 1A ), mandibular prognathism, low-set[blackstar.forp.usp.br]
Erythema
  • […] disease バッテン病 Frederick Eustace Batten(1865-1918) English neurologist and pediatrician Battle バトル バットル Battle's sign バトル徴候 William HenryBattle (1856-1936) English surgeon Bauhin バウヒン Bauhin's valve バウヒン弁 Bayes ベイズ Bayes theorem ベイズの定理 Bazin バザン Bazin's erythema[jams.med.or.jp]
Skeletal Dysplasia
  • The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977).[books.google.de]
  • The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias.[library.jkuat.ac.ke]
  • Diseases related with Wide nasal bridge and Skeletal dysplasia In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Skeletal dysplasia that can help you solving undiagnosed cases.[mendelian.co]
Genu Valgum
  • Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common.[en.wikipedia.org]
  • Affected people are clinically normal, apart from genu valgum , although scoliosis and bone fragility occasionally occur. The diagnosis of metaphyseal dysplasia is usually made when x-rays are done for an unrelated reason.[merckmanuals.com]
  • Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly[blueprintgenetics.com]
  • valgum Patchy sclerosis of finger phalanx Choanal atresia Elevated alkaline phosphatase Increased intracranial pressure Hyperparathyroidism Narrow chest Smooth philtrum Abnormality of neuronal migration Intestinal malrotation Patent ductus arteriosus[mendelian.co]
  • […] real incidence Usually evident early in childhood Clinical Features Great variation in distribution and extent of condition LLD a common feature Genu valgum may also be present Hands involved may grotesque swelling of digits Bowing of long bones also[flinders.edu.au]
Genu Valgum
  • Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common.[en.wikipedia.org]
  • Affected people are clinically normal, apart from genu valgum , although scoliosis and bone fragility occasionally occur. The diagnosis of metaphyseal dysplasia is usually made when x-rays are done for an unrelated reason.[merckmanuals.com]
  • Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly[blueprintgenetics.com]
  • valgum Patchy sclerosis of finger phalanx Choanal atresia Elevated alkaline phosphatase Increased intracranial pressure Hyperparathyroidism Narrow chest Smooth philtrum Abnormality of neuronal migration Intestinal malrotation Patent ductus arteriosus[mendelian.co]
  • […] real incidence Usually evident early in childhood Clinical Features Great variation in distribution and extent of condition LLD a common feature Genu valgum may also be present Hands involved may grotesque swelling of digits Bowing of long bones also[flinders.edu.au]
Normal Stature
  • stature, macrocephaly, prognathism, hypertelorism, teeth malalignment, nasal obstruction leading to mouth breathing, widened metaphyses, 'Erlenmeyer flask' deformity of distal femur (childhood), club-shaped distal femur (adulthood).[iofbonehealth.org]
  • The autosomal dominant form of craniometaphyseal dysplasia is characterized by good general health, normal stature and intelligence and the absence of systemic ramifications; the bones are not fragile and there is no lack of hematopoiesis (Reardon, 1991[blackstar.forp.usp.br]
Sloping Shoulders
  • shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit.[mendelian.co]
Leontiasis
  • They identified five cases in the literature, three of which had been termed ‘osteopetrosis’ and two ‘leontiasis ossea,’ and added two patients of their own.[link.springer.com]
  • Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. AMA Arch Intern Med 1954;94:871–885. PMID: 13217486. 3. Beighton P.[e-aps.org]
  • The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011 ).[mendelian.co]
Narrow Nose
  • nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with[mendelian.co]
Cesarean Section
  • Her birth was by cesarean section with cephalic presentation, normohydramnia, and normal placenta and umbilical cord. She weighed 3620 g at birth and her height was 53 cm.[blackstar.forp.usp.br]
Confusion
  • A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias.[books.google.de]
  • You can help by adding to it . ( July 2017 ) Diagnosis [ edit ] Differential diagnosis [ edit ] Pyle disease may be confused with craniometaphyseal dysplasia.[en.wikipedia.org]
Febrile Convulsions
  • At age 2 months, the child had a febrile convulsion episode. Since one year of age, the patient developed stomatitis concomitantly with bronchitis, but these ailments subsided in the last two years.[blackstar.forp.usp.br]
Convulsions
  • At age 2 months, the child had a febrile convulsion episode. Since one year of age, the patient developed stomatitis concomitantly with bronchitis, but these ailments subsided in the last two years.[blackstar.forp.usp.br]

Workup

  • Radiographic examinations showed increased radiopacities of the maxilla and mandibular bones due to hyperostosis and sclerosis, and needed a detailed workup of bone dysplasias which made it a rare presentation for documentation.[jiaomr.in]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The other potential treatment is a low calcium diet and calcitriol.[e-aps.org]
  • Treatment of metaphyseal dysplasia is often not necessary but may involve orthodontic treatments for dental malformations or orthopedic surgery for clinically significant skeletal deformities.[merckmanuals.com]
  • , treatment, prevention, prognosis, and additional useful information HERE .[dovemed.com]

Prognosis

  • The prognosis is dependent upon the severity of the symptoms.[dovemed.com]
  • Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1.[flinders.edu.au]
  • An accurate and early diagnosis and knowledge of the natural history of CMD is important for establishing preventative treatment regimens and proper management of complications as well as estimating the prognosis.[e-aps.org]
  • Prognosis In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy.[encyclopedia.com]
  • Considering the normal intelligence and life expectancy, the prognosis was good, but the patient was counselled regarding cosmetic and functional surgical correction for which he was reluctant because of his educational commitments.[jiaomr.in]

Etiology

  • Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology.[jiaomr.in]
  • […] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology[books.google.it]
  • This communication enables heartier parental education respecting the etiology, unaffected his- tory, and prognostication in behalf of their infant.[widewallpapergallery.com]
  • Etiologies include thrombosis due to infection, DEHYDRATION, coagulation disorders (see THROMBOPHILIA), and CRANIOCEREBRAL TRAUMA.[healthdictionary.info]

Epidemiology

  • 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.it]
  • SD3 - Syndactyly of fingers 4 and 5 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Affiliations Clinical Enteric Neuroscience Translational & Epidemiological Research (C.E.N.T.E.R.)[nature.com]
  • Epidemiology of respiratory infections in young children: insights from the new vaccine surveillance network. Pediatr Infect Dis J 2004 ;23: Suppl : S188 - S192 17. Weinberg GA, Hall CB, Iwane MK, et al.[nejm.org]
Sex distribution
Age distribution

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects.[icdlist.com]
  • Although otolaryngological manifestations are rare, we need to keep this disease in mind in order to prevent hearing deterioration by surgical intervention at an early stage.[jstage.jst.go.jp]
  • A low calcium diet is likely to prevent further deposition of minerals in bone and allow the calcitriol-induced osteoclasts to reduce the skull bone mass.[e-aps.org]
  • This book identifies common hazards that put workers at risk of slips, trips, and falls; describes the consequences of these incidents to the worker and the employer; and provides steps that can be taken to prevent slips, trips, and falls in the workplace[lrabs.org]

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