Document Detail


Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.
MedLine Citation:
PMID:  15844776     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.
Authors:
P S Iwanowski; S Stengel-Rutkowski; L Anderlik; J Pilch; A T Midro
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  16     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2005  
Date Detail:
Created Date:  2005-04-22     Completed Date:  2005-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  31-40     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Medical Academy of Bialystok, Bialystok, Poland.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Affect
Chromosome Deletion
Chromosomes, Human, Pair 4 / genetics*
Communication Disorders / complications,  genetics
Developmental Disabilities / complications,  genetics
Face / abnormalities
Genetic Counseling
Humans
Infant
Male
Monosomy / genetics
Phenotype*
Psychomotor Disorders / complications,  genetics
Skull / abnormalities
Social Behavior
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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