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Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous,...
Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable β‐glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible...
We describe monozygotic twins with colonic atresia and discuss genetic causes of colonic atresia. Am. J. Med. Genet. 91:204–206, 2000. © 2000 Wiley‐Liss, Inc.
Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype‐karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare...
Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q‐ syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial...
Mutations in the gene for fibrillin‐1 (FBN1) cause Marfan syndrome, a dominantly inherited disorder of connective tissue that primarily involves the cardiovascular, ocular, and skeletal systems. There is a remarkable degree of variability both within and between families with Marfan syndrome,...
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