|
|
|
|
|
Martin-bell SyndromeMartin-Bell syndrome or Martin Bell-Renpenning syndrome is a syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. Appears in boys (homozygous in the first year of life). In puberty there is pronounced growth of testes. abnormal speech pattern, large ears, long face, high-arched palate, and malocclusion. Additional abnormalities may include lordosis, heart defect, pectus excavatum, flat feet, shortening of the tubular bones of the hands, and joint laxity. Heterozygous females have a broad range of dysfunctions. Marin and Bell in 1943 described a large pedigree without knowledge of the cytogenetic anomaly and without considering the microorchidism. Sutherland in 1977 described a method for a secure and constant Darstellung of the fragile point. Renpenning's syndrome differs from Martin-Bell in the absence of any fragile site on the X-chromosome. Renpenning’s cases (short stature, moderate microcephaly, neurological disorders) were reported in a Dutch Mennonite pedigree from Alberta and Saskatchewan. Escalante's syndrome is the fragile X type. This term has been used in Brazil and other South American countries.
|
 |
|
| Copyright 2005-2009 OnPedia.com. All Rights Reserved |
|
|