Background: Multiple breath inert gas washout (MBW) has been suggested as a tool for
detecting early cystic fibrosis (CF) lung disease. A study was undertaken to compare the relative …

• Autosomal dominant microcornea with a cataract, previously described in four families, was
documented in a seven-generation family. Eighteen family members had microcornea and …

Five members of a four‐generation Mauritian family with ectrodactyly (split‐hand/split‐foot
deformity) and ectodermal dysplasia but without clefting of the lip or palate have been …

Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1)
gene on chromosome 17 were investigated by linkage studies in a large sample set of affected …

Background Recombinant human deoxyribonuclease is currently used to treat pulmonary
disease (the major cause of morbidity and mortality) in cystic fibrosis. Objectives To determine …

dysplasia) and complex congenital heart disease: Page 1 Clinical Dysmorphology 5, 165–169
(1996) The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart …

Jeune syndrome (asphyxiating thoracic dystrophy) associated... : Clinical Dysmorphology Jeune
syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease : Clinical …

… CE WALLIS AND PH BEIGHTON From the MRC Unit for Inherited Skeletal Disorders,
Department of Human Genetics, University of Cape Town Medical School, Observatory 7925 …

We think that man left his anthropoid cousis some two million years ago and that this cleavage
was by no means abrupt. The study of disease has doubtless been going on since the …

An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the
Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have …