Subaortic Stenosis--Short Stature Syndrome

From Turkey, Onat et al. (1984) described a family in which the parents were second cousins (according to the pedigree; the authors stated that they were 'offspring of full siblings,' i.e., first cousins) and both had short stature, obstructive lung disease, hoarseness and upturned nose. The father also had aortic stenosis and inguinal hernia; he died suddenly at age 47, having had exertional angina pectoris from age 42. The mother was said to have short, thin, atrophic vocal cords and false cords which assisted phonation. Of 6 offspring, 4 had clinical signs of aortic stenosis. The oldest sib, a woman 147 cm tall, died at age 29 and showed a fibrous ring just below the aortic cusps, together with fibrous thickening of the atrioventricular valves (especially of the mitral valve) and marked shortening of the chordae tendineae. The second sib died at age 23; aortic stenosis had been demonstrated. He was 150 cm tall. The fourth sib, 128 cm tall at age 22, had had inguinal hernia repaired at age 13, and showed severe kyphoscoliosis, congested episcleral veins (which were said to form a caput medusae in another sib), thin and atrophic vocal cords, and a fixed subaortic obstruction by echocardiographic, angiocardiographic and hemodynamic studies without signs of mitral stenosis. Wrist x-rays showed bilateral synostosis of the capitate and hamate bones. The authors favored autosomal dominant inheritance but recessive inheritance with pseudodominance seems quite possible. Fryns and Van den Berghe (1979) reported 2 sibs with discrete subvalvular aortic stenosis associated with corneal clouding, midfacial hypoplasia, and mental and growth retardation. Discrete subaortic stenosis is known to be progressive in nature, particularly during the growth period. Onat et al. (1984) observed progression in their patients.