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Autosomal Recessive Distal Osteolysis Syndrome

Distal Osteolysis with Short Stature Mental Retardation and Characteristic Facial Appearance


Presentation

  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Eight of them presented with deformed hands and four with painful hands. The parents were first cousins in all cases, and three families had more than one affected child.[cags.org.ae]
  • Hypokalaemia was present (3.1 mmol/l) as well as hyperphosphataemia (2.36 mmol/l). Proteinuria was 60 mg/l.[academic.oup.com]
  • Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy.[autoinflammatory-search.org]
  • Lytic areas are present in the metaphysis (arrow). SPNBF cloaks the proximal shaft and is also present along the axillary border of the scapula. The metaphyseal destructive lesions distinguish osteomyelitis from child abuse.[clinicalgate.com]
Short Stature
  • […] gene sharing: Human phenotypes related to Osteolysis Syndrome, Recessive: 60 33 (show all 18) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164 2 short[malacards.org]
  • Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip).[rarediseases.info.nih.gov]
  • Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck.[iofbonehealth.org]
  • Short Stature Revealing a Pycnodysostosis: A Case Report. Journal of Orthopaedic Case Reports 2016 April – June;6(2): 43-45.[jocr.co.in]
  • Pyknodysostosis, (alternatively spelled pycnodysostosis ) also known as osteopetrosis acro-osteolytica or Toulouse-Lautrec syndrome , is a rare autosomal recessive bone dysplasia, characterized by osteosclerosis and short stature.[radiopaedia.org]
Physician
  • 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]
  • Professor, Rutgers University School of Public Affairs and Administration Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha , New York Academy of Medicine , American Academy of Dermatology , American College of Physicians[emedicine.staging.medscape.com]
  • Climb. nd. 1p. www.climb.org.uk/Disorders/Summaries/WinchesterSyndrome.doc Years Published 1993, 1998, 2002, 2005 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician[rarediseases.org]
  • KJM is a consultant Paediatric Rheumatologist and a member of the Royal Australasian College of Physicians.[ped-rheum.biomedcentral.com]
  • J Assoc Physicians India 1988 Nov;36(11):668-70 Hugo B, Schmidt M Pseudotumor of the shoulder after massive osteolysis (Gorham-Stout) ROFO Fortschr Geb Rontgenstr Nuklearmed 1989 Jan;150(1):108-10 Falcone G, Gusso MI, Pennisi M A rare case of massive[orthopaedicsone.com]
Increased Susceptibility to Infections
  • Distinguishing features include calcification of dura mater and increased susceptibility to infections in the Papillon-Lefevre syndrome and arachnodactyly, acro-osteolysis, and onychogryphosis in the Haim-Munk syndrome (Hart et al. 1997).[rrnursingschool.biz]
Abnormal Teeth
  • Showing of 20 80%-99% of people have these symptoms Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal[rarediseases.info.nih.gov]
  • Obtuse angle of the mandible and lack or abnormal teeth can also be found. (7), (3) CT/ Plain radiograph Hands Delayed bone age Simulating acro-osteolysis Partial agenesis Aplasia of terminal phalanges Maxillofacial and Cranial Marked delay in sutural[syndromespedia.com]
  • While some of the reported stigmata were not visible in this patient (vocal cord paralysis, hearing loss, osteoporosis or early eruption of permanent teeth), he did demonstrate an abnormal teething pattern, with a delayed eruption of the permanent teeth[academic.oup.com]
Cutis Laxa
  • laxa type 1A, autosomal recessive FBLN5 Cutis laxa type 1B, autosomal recessive EFEMP2 Cutis laxa type 1C, autosomal recessive LTBP4 Cutis laxa type 2, autosomal dominant FBLN5 Cutis laxa type 2A, autosomal recessive ATP6V0A2 Cutis laxa type 2B, autosomal[centogene.com]
  • Pediatr Dermatol 17: 282–285 PubMed Google Scholar Jung K, Ueberham U, Hausser I, Bosler K, John B, Linse R (1996) Autosomal recessive cutis laxa syndrome. A case report.[link.springer.com]
  • laxa with severe pulmonary, gastrointestinal and urinary anomalies Duchenne muscular dystrophy Nance-Horan syndrome Romano-Ward syndrome Total congenital cataract Griscelli disease type 2 20p12.3 microdeletion syndrome Acromegaloid facial appearance[csbg.cnb.csic.es]
  • Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41 (9), 1016-1021. Sawyer, G. M., Clark, A. R., Robertson, S. P., & Sutherland-Smith, A. J. (2009).[otago.ac.nz]
  • Metaphysial rather than diaphysial involvement is distinguished by “Erlenmeyer flask” deformity in long bones. de BARSY SYNDROME This is one of the progeroid syndromes, which are distinguished by cutis laxa with subcutaneous paucity of fat and prominence[musculoskeletalkey.com]
Flexion Contracture
  • contracture 33 HP:0002987 13 knee flexion contracture 33 HP:0006380 14 osteolytic defects of the distal phalanges of the hand 33 HP:0009839 15 metacarpal osteolysis 33 HP:0001504 16 distal radial epiphyseal osteolysis 33 HP:0006449 17 osteolytic defects[malacards.org]
  • Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip).[rarediseases.info.nih.gov]
  • Diseases related with Flexion contracture and Anteverted nares In the following list you will find some of the most common rare diseases related to Flexion contracture and Anteverted nares that can help you solving undiagnosed cases.[mendelian.co]
  • Reexamination of the sisters at ages 35 and 24 years, respectively, showed short stature, increased weight, flexion contractures of the large joints, kyphosis, and very small hands and feet.[cags.org.ae]
  • Femoral shortening facilitates treatment of flexion contracture. Center the arc of motion at 15 degrees: walking is easier on straight knees. Talectomy may be necessary for clubfoot. Stiffness limits correction of scoliosis.[musculoskeletalkey.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Percent of people who have these symptoms is not available through HPO Abnormality of the foot Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity [ more ] 0001760 Autosomal recessive[rarediseases.info.nih.gov]
Foot Deformity
  • deformities Foot deformity [ more ] 0001760 Autosomal recessive inheritance 0000007 Distal radial epiphyseal osteolysis 0006449 Elbow flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Intellectual disability[rarediseases.info.nih.gov]
Insomnia
  • After a variable period of latency characterized by easy fatigability, asthenia, nervousness and insomnia the typical symptoms appear.[rrnursingschool.biz]

Workup

  • Diagnostic Workup Patients will have no limitations in regard to motion and will not have shoulder instability.[clinicaladvisor.com]

Treatment

  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The treatment was given after informed consent was obtained from the parents.[ard.bmj.com]

Prognosis

  • Prognosis The prognosis for a person with Toulouse Lautrec Syndrome is generally good. The sufferer will be prone to fractures, but with care. Lifespan can be normal or near-normal. References: Avon SL.[syndromespedia.com]
  • The prognosis of this disease is good and no serious systemic alterations have been noted.[jiaomr.in]
  • In the literature, the prognosis is generally considered to be good. However, in spinal or thoracic involvement, life-threatening complications can occur [ 10 ]. Management of Gorham-Stout syndrome is also a subject of controversy.[ped-rheum.biomedcentral.com]

Etiology

  • Lo siento en Still ́s disease is a rare systemic disorder of unknown etiology, characterized by high spiking fever, evanescent salmon-colored rash, arthritis, which can be associated with odynophagia, hepatosplenomegaly and lymphadenophaties. es Probablemente[es.glosbe.com]
  • Gorham disease must be distinguished from osteolysis secondary to other pathologic processes, including the hereditary, metabolic, neoplastic, infectious and immunologic etiologies.[kjronline.org]
  • The clinical findings vary with the etiology, and the radiographic manifestations are nonspecific in many cases. Brachydactyly, digital contractures and progressive deformities can occur as late manifestations.[rrnursingschool.biz]
  • .: A familial peripheral neuropathy of unknown etiology resembling Morvan's disease. Canad. Med. Assoc. J. 54: 547-553, 1946. 18. Ohta, M.; Ellefson, R. D.; Lambert, E. H.; Dyck, P.[genome.jp]
  • The etiology of unilateral renal agenesis is heterogenous with environmental and genetic influences. Prenatal factors associated to renal agenesis are diabetes mellitus, alcohol exposure, black race, and young maternal age [ 12, 13 ].[ped-rheum.biomedcentral.com]

Epidemiology

  • Epidemiology [ edit ] The precise frequency of pycnodysostosis has not been determined.[en.wikipedia.org]
  • Methods Statistics Trigonometry Medical & Nursing Anatomy Anesthesiology Audiology Bacteriology Biochemistry Bioethics Biomedical Science Cardiology Cardiovascular Childbirth Chiropractic Dentistry Dermatology Diagnostic Imaging Drugs Endocrinology Epidemiology[brainscape.com]
  • Relevant External Links for TNFRSF11B Genetic Association Database (GAD) TNFRSF11B Human Genome Epidemiology (HuGE) Navigator TNFRSF11B Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNFRSF11B No data available for Genatlas for TNFRSF11B[genecards.org]
  • Akt Dermatol 13: 107–109 Google Scholar Tavadia S, Mortimer E, Munro CS (2002) Genetic epidemiology of Darier’s disease: a population study in the west of Scotland.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

Prevention

  • Discusses prevention steps. Pages[mottchildren.org]
  • Regular checkups and dental hygiene are helpful for preventing complications.[syndromespedia.com]
  • The bone fractures are the main threat to patients affected by Pycnodysostosis, thus it is important to prevent or minimize the risk of fracture.[jocr.co.in]
  • Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public[emedicine.staging.medscape.com]
  • (Cadaver shoulder model demonstrating that the amount of bone removed after an arthroscopic distal clavicle excision was adequate to prevent impingement of the clavicle on the acromion when loaded.) Miller, CA, Ong, BC, Jazrawi, LM.[clinicaladvisor.com]

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