A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. [ncbi.nlm.nih.gov]

On Dwarfism. von Dreele, W.H. // National Review;8/14/1987, Vol. 39 Issue 15, p12 Presents the poem "On Dwarfism". Midget. // Columbia Electronic Encyclopedia, 6th Edition;Feb2013, p1 Midget: see dwarfism. [connection.ebscohost.com]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

Abstract A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. [link.springer.com]

• Developmental Delay

  delay Short rib – polydactyly, thorax deformity, rhizomelia Childhood mortality from renal disease Short rib may have neonatal lethality [arupconsult.com]

  FGFR3 chondrodysplasia group This includes the following conditions: Achondroplasia Thanatophoric dysplasia types 1 and 2 Hypochondroplasia Severe achondroplasia with developmental delay and acanthosis nigricans Camptodactyly, tall stature, and hearing [emedicine.medscape.com]

  Some affected individuals have additional features that may include sensorineural hearing loss, developmental delay, brachydactyly, and coned epiphyses in the hands and feet. [basicmedicalkey.com]

  Polythelia forms part of the X-linked Simpson–Golabi–Behmel syndrome and another syndrome additionally including aplasia cutis congenita, microcephaly and developmental delay with apparent autosomal dominant inheritance. [plasticsurgerykey.com]

  delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism NEB Nemaline myopathy PIEZO2 Distal arthrogryposis, Marden-Walker syndrome PLOD2 Bruck syndrome, Osteogenesis imperfecta type 3 PMM2 Congenital disorder of glycosylation RAPSN Myasthenic [genda.com.ar]

• Pain

  Many involve joint pain caused by abnormal bone alignment, or from nerve compression. Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. [dict.eudic.net]

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  In this case, recurrent purulent discharge and preauricular abscesses causing oedema, erythema and pain may develop. [plasticsurgerykey.com]

• Collapse

  The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‏ الصفحة 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS. [books.google.com]

• Surgical Procedure

  Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgical procedures. The only simple interventions that increase perceived adult height are dress enhancements, such as shoe lifts or hairstyle. [dict.eudic.net]

• Aspiration

  Rossi's three full-time employees, featured in the series, are all little people and aspiring actors. [dict.eudic.net]

  Fine-needle aspiration may serve as a useful tool for diagnosis. Complete excision of ectopic breast tissue is recommended because of the risk of malignant transformation [1]. [plasticsurgerykey.com]

• Erythema

  In this case, recurrent purulent discharge and preauricular abscesses causing oedema, erythema and pain may develop. [plasticsurgerykey.com]

• Muscular Atrophy

  atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy ACP5 Spondyloenchondrodysplasia [genda.com.ar]

  atrophy, congenital TRPV4 Spinal muscular atrophy, distal (DSMA) BSCL2 del, TRPV4 Spinal muscular atrophy, distal, X-linked (SMAX) ATP7A del dup Splenic hypoplasia NKX2-5 Split-hand/foot malformation (SHFM) TP63 ( p63), WNT10B Spondylism, congenital [uniklinik-freiburg.de]

• Lordosis

  Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. Reduced thoracic size can restrict lung growth and reduce pulmonary function. [dict.eudic.net]

• Disproportionate Dwarfism

  Disproportionate dwarfism is characterized by one or more body parts being unusually large or small compared to the rest of the body. [dict.eudic.net]

• Suggestibility

  Autosomal dominant inheritance is suggested. Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. [jmg.bmj.com]

  Loss of the 21 amino acids encoded by exons 8 and 9 is suggested to cause aberrant expression of FGFR2b [ 62 ]. [basicmedicalkey.com]

  Functional studies suggest that these FGFR mutations are activating. Three major mechanisms of activation have been described. The first results in increased affinity for fibroblast growth factors (FGFs), the FGFR ligands. [ommbid.mhmedical.com]

  Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem. Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs. [dict.eudic.net]

  Phenotype / cell stem origin The same t(6;8)(q27;p12) is found both in the bone marrow and in the lymph node: the multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell. [atlasgeneticsoncology.org]

• Distractibility

  The most effective means of increasing adult height by several inches is distraction osteogenesis, though availability is limited and the cost is high in terms of money, discomfort, and disruption of life. [dict.eudic.net]

• Denial

  Dickson, David // Nature;7/29/1993, Vol. 364 Issue 6436, p372 Reports on the denial by the Pasteur Institute in Paris of alleged malpractice over the deaths from Creutzfeldt-Jakob disease of several children treated for dwarfism. [connection.ebscohost.com]

• Polyneuropathy

  […] external scoliosis Opitz–Mollica–Sorge syndrome Opitz–Reynolds–Fitzgerald syndrome Opitz syndrome Opportunistic infections Oppositional defiant disorder Opsismodysplasia Opt [ edit ] Optic atrophy ophthalmoplegia ptosis deafness myopia Optic atrophy polyneuropathy [en.wikipedia.org]

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]

There is no single treatment for dwarfism. [dict.eudic.net]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

Best prognosis. Frequently misinterpreted as an encephalocele or hygroma. Weiner CP, Williamson RA, Bonsib SM. Sonographic Diagnosis of Cloverleaf Skull and Thanatophoric Dysplasia in the Second Trimester. J Clin Ultrasound 1986, 14: 463-465. [fetalultrasound.com]

Prognosis Median survival: 6 months. Although the number of reported cases is low, EMS seems to be disease with bad prognosis that generally progresses to acute leukemia. [atlasgeneticsoncology.org]

Adenocarcinoma of the urachus may rarely occur in later life and has a poor prognosis. [plasticsurgerykey.com]

In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and [books.google.com]

The etiology of craniosynostosis is heterogeneous. Isolated occurrence with unknown etiology is common, mostly affecting the sagittal suture. [ommbid.mhmedical.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology OGD is caused by mutations in the FGFR1 gene (8p11.2-p11.1). Genetic counseling OGD is transmitted in an autosomal dominant manner. Last updated: 9/30/2009 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Epidemiology Less than ten cases have been reported so far. [rarediseases.info.nih.gov]

Epidemiology Rare, very few cases described with this translocation (eight until date, four female and four male). A higher number have been described with other FGFR1 fusions, mainly t(8;13) and ZNF198 -FGFR1 fusion. [atlasgeneticsoncology.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 2004;26:17–24. 2 Dissemond J, Haberer D, Franckson T, Hillen U. [plasticsurgerykey.com]

This provides a platform for ongoing work to understand the processes of suture biogenesis and the pathophysiology of craniosynostosis mutations. [ommbid.mhmedical.com]

Prevention Many types of dwarfism are currently impossible to prevent because they are genetically caused. [dict.eudic.net]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

They are thought to be caused by early entrapment-induced fixation of the skin to the underlying bony prominence, thus preventing the development of subcutaneous tissue. [plasticsurgerykey.com]

Holick MF: Vitamin D and sunlight: strategies for cancer prevention and other health benefits. Clin J Am Soc Nephrol 2008;3:1548-1554. [karger.com]

HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia [uniklinik-freiburg.de]