113- Onat A, Onat T, Domaniç N: Discrete Subaortic Stenosis as Part of a Short Stature Syndrome. Human Genetics, 65: 331-35, 1984.

Kongenital subaortik fibröz stenozlar genellikle multifaktöryel olarak kalıtımla geçer. Bu ailedeki 6 vak'a ile fibröz subaortik darlığın dominant yolla geçtiği kanıtlanmış ve boy kısalığı, ses kısıklığı, obstrüktif akciğer hastalığı gibi diğer bulguların bir sendromu tamamlamaktadır. 13-28 yaşları arasındaki bu 6 kişi 8 yıl izlenmiştir. Bu arada en yaşlı olan ikisi kaybedilmiş ve otopsi bulguları subaortik darlığı teyid etmiştir.
Dört şekil, 8 kaynak içeren bu yayın literatüre Onat sendromu olarak geçmiştir.

Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up of a multisystem disorder. Both parents, offsprings of two full siblings had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father alone had aortic stenosis and inguinal hernia. The six offspring, aged from 13 to 28 years, were followed up for up to 8 years. While one of them was virtually normal, and one had only minor abnormalities, 4 siblings displayed clinical signs of progressive aortic stenosis. Of the two eldest siblings who eventually died, necropsy in one showed a discrete ubaortic stenosis, which was hemodynamically proven in one and surgically corrected in another sibling.
Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DDS in four, OLD, inguinal hernia and congested episcleral veins in 3, kyphosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the diceased female. The prevalence of some of these traits in roughly three-quarters of the sibship was consistent with an underlying single gene abnormality in affected heterozygous parents. We proposed that this constitutes a new syndrome.


113- Anahtar kelimeler: Subaortik fibröz darlık, boy kısalığı, obstrüktif akciğer hastalığı, ses kısıklığı, genetik.