Presentation
Feeding difficulties have been reported while anal atresia is present in about half of patients. [disorders.eyes.arizona.edu]
In going about the business of picking and choosing, however, a writer has an obligation to present the arguments for and against a particular conclusion. [books.google.de]
A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). [mendelian.co]
Respiratoric
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Pharyngitis
Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). [mendelian.co]
Eyes
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Periorbital Fullness
fullness Multiple rows of eyelashes Decreased muscle mass Ectopia lentis Cortical myoclonus Smooth philtrum Unilateral narrow palpebral fissure Growth delay Talipes equinovarus Pectus excavatum Midface retrusion Dilatation Brachycephaly Proptosis Pes [mendelian.co]
Ears
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Hearing Impairment
impairment Hyporeflexia Sensorineural hearing impairment Right aortic arch with mirror image branching Sacral meningocele Arteria lusoria Aplasia of the thymus Edema Rheumatoid arthritis Seborrheic dermatitis Acne Velopharyngeal insufficiency Amenorrhea [mendelian.co]
Neurologic
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Neonatal Hypotonia
hypotonia Small for gestational age Dolichocephaly Abnormality of the foot Aortic aneurysm Long face Arachnodactyly Joint hypermobility Bruising susceptibility Mitral valve prolapse Blue sclerae Tall stature Mitral regurgitation Joint contracture of [mendelian.co]
Workup
They can also be a telling diagnostic sign that can be used in a workup of an infant who appears to have a congenital abnormality. [wisegeekhealth.com]
Treatment
Treatment Treatment Options: There is no known treatment for the syndrome but surgery can be important for some of the external and internal malformations. Special education and treatment of hearing loss are important. [disorders.eyes.arizona.edu]
[…] operations 391 13 Sacroiliac junction caries of 88 17 Epistaxis tansy in 466 22 Shaffer Dr N M letter from 311 27 Fallopian pregnancy cases of 207 47 Shock advantage of position in 346 73 Kneejoint amputation at 185 258 operation for anchy 84 Field Dr A G treatment [books.google.de]
Treatment options can include medicated eye drops to reduce inflammation and treat infection. [wisegeekhealth.com]
Fetal alcohol syndrome: diagnosis, epidemiology, prevention, and treatment. Washington, D.C.: National Academy Press, 1996. 3. Olney JW. Fetal alcohol syndrome at the cellular level. Addict Biol. 2004;9:137–49. 4. [aafp.org]
Prognosis
M obituary notice of 334 404 Postmortem needles new descriptions of 238333 421 Wood Dr George B review of work by 568 425 Hooker Dr Worthington obituary notice of 453 Prescriptions and their ownership 261470 470 Indigestions review of work on 87 471 Prognosis [books.google.de]
Etiology
[…] in social perception • Visual-spatial: deficits in spatial processing; poor handwriting; impaired visual-motor integration TABLE 4 Genetic and Teratogenic Conditions to Be Considered in the Differential Diagnosis of FASD 79 – 81 Malformation Syndrome Etiology [pediatrics.aappublications.org]
Epidemiology
Epidemiology FASD may affect up to 1 percent of the U.S. population. 1, 2 Birth defects related to these disorders can be prevented by avoiding alcohol ingestion during pregnancy. [aafp.org]
Atlantoaxial instability in individuals with Down Syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics. 1987. 80:555-560. Juj H, Emery H. The arthropathy of Down syndrome: an underdiagnosed and under-recognized condition. [medscape.com]
Prevention
Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. [books.google.es]
Atlanta, GA: Centers for Disease Control and Prevention; 2004 [aap.org]
Keeping the eyes clean by washing the face regularly with warm to hot water and soap will help maintain eye health and prevent infection and irritation of the eyes. [wisegeekhealth.com]
Epidemiology FASD may affect up to 1 percent of the U.S. population. 1, 2 Birth defects related to these disorders can be prevented by avoiding alcohol ingestion during pregnancy. [aafp.org]
Health care guidelines for individuals with Down syndrome (Down syndrome preventative medical check list). Down Syndrome Q. 1996. 1(2):1-10. [Full Text]. Nieuwenhuis-Mark RE. [medscape.com]