Sleisenger and Fordtran's Gastrointestinal and Liver Disease (10 ed.). Elsevier. pp. 801–803. ^ a b c Avery's Diseases of the Newborn (10 ed.). Elsevier. 2018. pp. 1039–1053. ^ Fetal and Neonatal Physiology (5 ed.).
In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.). ... In Yamada, Shokei (ed.). Tethered Cord Syndrome in Children and Adults (Rev. ed.).
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele.
A number sign (#) is used with this entry because of evidence that susceptibility to the development of neural tube defects (NTDs) is conferred by variation in the VANGL1 (610132), VANGL2 (600533), CELSR1 (604523), or FUZ (610622) genes. An association has been reported with variants in the T locus (601397) on chromosome 6q. Description Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic.
A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.
For a general phenotypic description and a discussion of genetic heterogeneity of neural tube defects, see 182940 and 601634. Inheritance Toriello et al. (1980) observed either anencephaly or spina bifida in 5 males in 5 different sibships spanning 4 generations genealogically connected through females. Baraitser and Burn (1984) and Toriello (1984) reported additional kindreds with pedigree patterns strongly supporting X-linked recessive inheritance. Baraitser and Burn (1984) reported a nonconsanguineous Pakistani Muslim family in which a woman had 3 brothers and 3 sons with neural tube defects, including posterior encephalocele and spina bifida cystica. Jensson et al. (1988) reported an Icelandic family in which 5 males had either anencephaly or spina bifida: 2 had spina bifida, 2 sibs had anencephaly, and 1 had both high and low spinal lesions.
Pediatric life care planning and case management (2nd ed.). Boca Raton, FL: CRC Press. p. 392. ... Newborn surgery (3 ed.). London: Hodder Arnold. p. 811. ISBN 9781444149494 . ^ a b Ferri, Fred F. (2016).
Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve damage. Babies born with spina bifida often have a fluid-filled sac, covered by skin, on their back. This is called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of spina bifida can range from mild to severe, depending on the location and extent of spinal cord involvement.
A number sign (#) is used with this entry because folate-sensitive neural tube defects (NTDFS) have been associated with variation in a number of genes involved in folate and homocysteine metabolism, including 5,10-methylenetetrahydrofolate reductase (MTHFR; 607093), methionine synthase (MTR; 156570), methionine synthase reductase (MTRR; 602568), and methylenetetrahydrofolate dehydrogenase-1 (MTHFD1; 172460). See also 182940 for a discussion of neural tube defects that are not associated with folate metabolism. See also 601775 for a description of variation of folate levels in erythrocytes. Description Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005).
Dorland's Illustrated Medical Dictionary (32nd ed.). Elsevier. p. 256. ... Demos Medical Publishing, 2009, 3rd ed, pages 115-116. ISBN 978-1-933864-35-8. ^ David McDougal; Dave Van-Lieshout; John Harting. ... Demos Medical Publishing, 2009, 3rd ed, page 115. ISBN 978-1-933864-35-8. ^ George Milbry Gould; James Hendrie Lloyd. ... Demos Medical Publishing, 2009, 3rd ed, page 114. ISBN 978-1-933864-35-8. ^ Jody Corey-Bloom; Ronal B. ... Demos Medical Publishing, 2009, 3rd ed, page 114. ISBN 978-1-933864-35-8. ^ Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients, 2014. http://cirrie.buffalo.edu/encyclopedia/en/article/112/#s4 ^ Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients, 2014. http://cirrie.buffalo.edu/encyclopedia/en/article/112/#s4 External links[edit] Classification D MeSH: D020235
Diagnostic and statistical manual of mental disorders (fifth ed.). Arlington, VA: American Psychiatric Association. p. 88. doi:10.1176/appi.books.9780890425596. ... In Castonguay L, Oltmanns T (eds.). Psychopathology: From Science to Clinical Practice. ... In LeCroy CW, Holschuh J (eds.). First Person Accounts of Mental Illness and Recovery. ... In Castonguay L, Oltmanns T (eds.). Psychopathology: From Science to Clinical Practice. ... Mental health nursing: the nurse-patient journey (2nd ed.). Philadelphia: W.B.
Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. pp. 685–705. ISBN 978-0-89042-555-8 . ^ Diagnostic and Statistical Manual of Mental Disorders, 5th ed., p. 456 ^ http://www.dsm5.org/Documents/Paraphilic%20Disorders%20Fact%20Sheet.pdf DSM-5 Documents: Paraphilic Disorders Fact Sheet ^ Cowen P, Harrison P, Burns T (2012). ... Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). ... Sources Laws, Richard D.; O'Donohue, William T., eds. (2008). Sexual Deviance: Theory, Assessment, and Treatment (2 ed.).
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., 2. ed.). Geneva: World Health Organization. p. 38. ISBN 9789241546492 . ^ J.@Saclarides, ed. by Jonathan A.@Myers, Keith W.@Millikan, Theodore (2008). Common surgical diseases an algorithmic approach to problem solving (2nd rev. ed.). ... "Head and Neck Tumors" in Pazdur R, Wagman LD, Camphausen KA, Hoskins WJ (Eds) Cancer Management: A Multidisciplinary Approach. 11 ed. 2008. ^ "Cancer Staging Fact Sheet".
Clinical Features Stern et al. (1984) described a kindred in which 7 persons in 3 generations had a seemingly undescribed syndrome that combined unique corneal changes with diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth and dental problems. Patients complained of photophobia and burning and watering of the eyes. One required corenal transplant. Slit-lamp examination showed corneal epithelial changes; corneal biopsy showed mild dysplastic changes in the epithelium. Changes recurred in the transplanted cornea. The skin disorder was evident in the first year of life. The changes in the palms, soles, elbows, and knees were erythematous and scaly.
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
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Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.
Emergency medicine (8th ed.). New York: McGraw-Hill. ISBN 9780071840613 . ... Steer, Philip J. (4th ed.). St. Louis, MO: Saunders/Elsevier. pp. 861–891. ... Wayne (Eighth ed.). Philadelphia, PA: Saunders, Elsevier. pp. 626–637. ... (Tenth ed.). [New York]: McGraw-Hill Education. ISBN 9781259589287 . ... Larry,, Loscalzo, Joseph (19th ed.). New York: McGraw-Hill Education.
Zollikofer, eds. (2005). Musculoskeletal diseases : diagnostic imaging and interventional techniques. 37th International Diagnostic Course in Davos (IDKD) Davos, April 2-8, 2005 : including the Pediatric Satellite course "Kangaroo" Davos, April 2-3, 2005. ... ISBN 8847003180 . - Ebel, Klaus-Dietrich; et al., eds. (1999). Differential diagnosis in pediatric radiology. ... ISBN 9783131081315 . - Ebel, Klaus-Dietrich; et al., eds. (1999). Differential diagnosis in pediatric radiology.
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[citation needed] See also[edit] Intracranial hemorrhage References[edit] ^ a b Fausto, [ed. by] Vinay Kumar; Abul K. ... Robbins and Cotran pathologic basis of disease (7th ed.). Philadelphia: Elsevier/Saunders. ... Goljan, Pathology, 2nd ed. Mosby Elsevier, Rapid Review Series. ^ synd/28 at Who Named It?
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
