| Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. | |
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MedLine Citation:
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PMID: 19606488 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioral issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals. |
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Authors:
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Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-30 Completed Date: 2009-09-30 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1712-21 Citation Subset: IM |
Copyright Information:
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2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. genequeen76@gmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
pathology* Adolescent Adult Age Distribution Behavior Child Child, Preschool Female Genetic Counseling Growth and Development Heterozygote Humans Infant Infant, Newborn Male Nervous System Diseases / complications, pathology Parents Phenotype Pregnancy Puberty Syndrome Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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CA39926/CA/NCI NIH HHS; R01 CA039926-21A1/CA/NCI NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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