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Cornelia de Lange syndrome

Cornelia de Lange Syndrome aka CdLS is a rare genetic disorders that lead to severe delopmental anomalies. It is known to affect both physical and intellectual development in a child. The exact cause of the disease is yet to be diagnosed - but to the best of medical prognosis so far, it is termed to be a Genetic Disorder that most probably arises out of a faulty gene on Chromosome 3. Although a rare disorder, the occurence is equally likely in both males and females. more...

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The first ever documented case was in 1916 by Dr. W. Brachmann followed up by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933 after whom the disorder has been named.

Since there are no medical tests that can verify the presence of this disorder, the only way to identified it is through physical characteristics (during the growing period) and is usally diagnosed by a genetics specialist.

Following are the features and characteristics which help in spotting this disorder:

  • Low birth weight (usually under 5 pounds)
  • Delayed growth and small stature
  • Developmental delay
  • Limb differences (sometimes missing limbs or portions of limbs)
  • Small head size (microcephaly)
  • Thin eyebrows which typically meet at midline
  • Long eyelashes
  • Short upturned nose and thin downturned lips
  • Long philtrum
  • Excessive body hair
  • Small hands and feet
  • Small widely spaced teeth
  • Low-set ears
  • Hearing impairments
  • Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia)
  • Partial joining of the second and third toes
  • Incurved 5th fingers
  • Gastroesophageal reflux
  • Seizures
  • Heart defects
  • Cleft palate
  • Feeding problems

Source: Special Child: Disorder Zone Archives

Children with this Syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be sparse - or a whole lot more than any other family member. Height wise more often than not, they're found to be lacking when compared to the rest of the family. However, none of these features are of serious consequence and in most cases do not matter to the affected person.

On the other hands - CdLS can give rise to it's own array complexities. Children with CdLs often suffer from gastrointestinal tract difficulties. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. However, symptoms may range from mild to severe.

Links

  • OMIM - Online Mendelian Inheritance in Man
  • Cornelia de Lange Syndrome Foundation, Inc
  • Genetic Alliance - Advocacy, Education & Empowerment
  • Cleft and Craniofacial Anomalies
  • Pediatric Database (PEDBASE)
  • Cornelia de Lange Syndrome Foundation, Inc. (UK)
  • Cornelia de Lange Web Ring (for personal web sites)
  • eMedicine - Cornelia De Lange Syndrome : Article by Mustafa Tekin, MD

Read more at Wikipedia.org


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Update: influenza-associated deaths reported among children aged <18 years—United States, 2003-04 influenza season
From Morbidity and Mortality Weekly Report, 1/2/04 by J Wright

On December 19, this report was posted on the MMWR website (http://www.cdc.gov/mmwr).

Since October, 42 influenza-associated deaths among children aged <18 years have been reported to CDC. All patients had influenza virus infection detected by rapid antigen testing or other laboratory testing methods. This report describes preliminary findings based on data provided from multiple states, as of December 17, 2003. To improve surveillance, CDC has requested that all influenza-associated deaths of children aged <18 years be reported to CDC through state health departments.

Among the 42 reported deaths, 20 (48%) patients were male, and 21 (50%) were female; the sex of one patient was not reported. Twenty-three (55%) of the children were aged <5 years, and 13 (31%) were aged 6-23 months (Table 1). The median age was 4 years (range: 9 weeks-17 years). Seventeen (40%) of the children had underlying chronic medical conditions (Table 2); the previous medical status for four (10%) children was unknown. Among the 21 patients who had no underlying chronic medical condition, five had invasive bacterial co-infections, including three caused by methicillin-resistant Staphylococcus aureus (MRSA), one by Streptococcus pneumoniae, and one by Group A streptococcus. Three children with underlying chronic medical conditions had invasive bacterial co-infections, including one caused by MRSA, one caused by Streptococcus pneumoniae, and one caused by Neisseria menigitidis.

Influenza vaccination status was available for only seven patients; five (aged 1 year, 14 months, 20 months, 3 years, and 8 years) were not vaccinated; two (aged 21 months and 5 years) received 1 dose of influenza vaccine; however, their previous vaccination history was unknown. Influenza A viruses were isolated from 11 (26%) patients; 29 (69%) infections were detected by rapid diagnostic testing or by direct fluorescent antibody testing of respiratory specimens. In two (5%) patients, evidence of influenza A virus infection was solely by immunohistochemical staining (IHC) of postmortem tissue specimens at CDC (Figure). Five cases that were positive by rapid antigen testing of respiratory specimens also were tested by IHC; all five also had influenza A viral antigens detected in bronchial epithelium tissues obtained at autopsy. CDC continues to work with state health departments to collect additional information on all cases.

Editorial Note: Influenza-associated deaths are not reportable conditions in the United States, and the average annual number of such deaths is unknown. However, cases of sudden death associated with influenza in previously healthy children in the United States have been reported (1; CDC, unpublished data, 2003). During 1990-1999, approximately 92 influenza-associated respiratory and circulatory deaths were estimated to have occurred annually among children aged <5 years (2). However, this estimate was based on mathematical modeling and not on counting fatalities associated with laboratory-confirmed influenza virus infection.

Among the 42 reported cases, laboratory-confirmed influenza virus infection was found in all of the children. Influenza can be confirmed by various methods, including commercially available rapid tests, viral culture, direct fluorescent antibody, reverse transcriptase polymerase chain reaction, IHC of tissues collected during autopsy (3), and paired serology.

CDC Request for Reports of Influenza-Associated Deaths Among Children

During the 2003-04 influenza season, CDC is requesting that all influenza-associated deaths among children aged < 18 years be reported to CDC through state health departments. In addition, CDC is requesting submission of postmortem tissue specimens and autopsy reports where available. Influenza viral isolates in fatal cases also should be sent to CDC for antigenic characterization.

To report the influenza-associated death of a child aged < 18 years, state health departments should contact CDC's Influenza Branch, telephone, 800-232-4636; e-mail, cocinfluenza@cdc.gov. Case-reporting and specimen-collection forms will be made available to state health departments and medical examiners via the Epidemic Information Exchange, available at http://www.cdc.gov/mmwr/epix/cpix.html. When completed, the forms should be sent with a cover sheet headed ATTN: Fatal Case Reporting to CDC via fax, 888-232-1322.

References

(1.) CDC. Severe morbidity and mortality associated with influenza in children and young adults--Michigan, 2003. MMWR 2003;52:837-40.

(2.) Thompson W, Shay D, Weintraub E, et al. Mortality associated with influenza and respiratory syncytial virus in the United States. JAMA 2003;289:179-86.

(3.) Guarner J, Shieh WJ, Dawson J, et al. Immunohistochemical and in situ hybridization studies of influenza A virus infection in human lungs. Am I Clin Path 2000;114:227-33.

State and local health departments. Influenza Response Team, J Wright, DVM, A Likos, MD, N Bhat, MD, EIS officers, CDC.

COPYRIGHT 2004 U.S. Government Printing Office
COPYRIGHT 2004 Gale Group

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