Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS.
12.
Similar mutations in c-Raf can also cause a related condition, termed LEOPARD syndrome ( Lentigo, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, Deafness ), with a complex association of defects.
13.
Though individuals with ALGS have several body systems affected, there is a subset of individuals with " JAG1 " mutations who present with tetralogy of fallot / pulmonary stenosis that do not show the other clinical signs of the syndrome.
14.
Although statistically people with dextrocardia situs inversus do not have any medical problems from the disorder, they may be prone to a number of bowel, esophageal, bronchial and cardiovascular disorders ( such as double outlet right ventricle, endocardial cushion defect and pulmonary stenosis ).
15.
"' Keutel syndrome "'( KS ) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges ( tips ) of the fingers and mild mental retardation.
