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]

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]

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]

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]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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]

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

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

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]