This is an autosomal dominantQ syndrome phenotypically similar to Turner SyndromeQ but with normal Karyotype. Q
- Short Stature
- Webbing of neck
- Pectus carinatum or pectus excavatum
- Cubitus valgus
- Characteristic Facies: Hypertelorism, downward slanted palpebral fissure, Microganthia Ptosis and ear abnormalities.
- Congenital heart defect - Dysplastic pulmonary valve stenosis
- Pulmonary artery stenosis- Atrial septal defect- Hypertrophic cardiomyopathy
Moderate mental retardation occur in 25%Q
Haematological abnormalities including low clotting factor XI, XII and leukemia have been reported.