An Unusual Combination of Cardiac Abnormalities in Ullrich -Noonan Syndrome: [ALIŞILMAMIŞ KALP BULGULARI İLE BİRLİKTE ULLRICH-NOONAN SENDROMU]

Can Boğa; Yalçın Kepekçi; Ayhan Usal; Mustafa Demirtaş; Çiğdem Bahar

doi:10.58600/eurjther.19920302-1471

Authors

Can Boğa Gaziantep Üniversitesi Tıp Fakültesi İç Hastalıkları ABD,Doç.Dr.
Yalçın Kepekçi Gaziantep Üniversitesi Tıp Fakültesi İç Hastalıkları ABD, Yrd.Doç.Dr.
Ayhan Usal Çukurova Üniversitesi Tıp Fakültesi Kardiyoloji ABD, Arş.Gör.
Mustafa Demirtaş Çukurova Üniversitesi Tıp Fakültesi Kardiyoloji ABD, Doç.Dr.
Çiğdem Bahar Gaziantep Üniversitesi Tıp Fakültesi İç Hastalıkları ABD, Dr.

DOI:

https://doi.org/10.58600/eurjther.19920302-1471

Keywords:

Ulrich- Noonan Syndrome, congenital cardiac abnormalities, extra cardiac manifestations

Abstract

A 32 year old woman with Ullrich-Noonan syndrome was presented. Together with the various cardiac abnormallities, it was represented the interesting observation in that case. No sufficient data associated with the combination of bicuspid aorta, atrial septal defect and mitral stenosis was obtained in literature. Extra cardiac abnormalities such as webbed neck, cervical vertebral fusion, pectus carinatus and phalangeal deformities were present in our case.

Metrics

Metrics Loading ...

References

- Mendez HMM and Opitz JM: Noonan syndrome: A review. Am J Med Genet 21:493, 1985.

- Nora JJ, Nora AH, Sinha AK, Spangler RD and Lubs HA: 1He Ullrich-Noonan syndrome (Turner phenotype) Am J Dis Child 127: 48, 1974.

- Levy EP, Pashayan H, Fraser FC and Pinsky L: XY Turner phenotypes in a family. Am J Dis Child 120:36, 1970.

- Nora JJ and Sinha AK: Direct familial transmission of the Turner phenotype. Am J Dis Child 116:343, 1968.

- Nora JJ, Lortscher RH and Spangler RD: Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child 129:1417, 1975.

- Pearl W: Cardiovascular anomalies in Noonan's syndrome. Chest 71:677, 1977.

- Bolton MR, Pugh DM, Mattioli LF, Dunn MI and Schimke RN: The Noonan syndrome. A family study. Ann Intern Med 80:626, 1974.

- Summitt RL: Tumer syndrome and Noonan's syndrome. J Pediatr. 75:729, 1969.

- Van Der Hauwaert LG, Fryns JP, Dumoulin M and Logghe N: Cardiovascular malformations in Tumer's and Noonan's syndrome. Br Heart J 40-500, 1978.

- Caralis DG, Char F, Graber JD and Voight GC: Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature. Johns Hopkins Med J 134:346, 1974.

- Engel E and Forbes AP: Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine 44:135, 1965.

- Nora JJ, Torres FG, Sinha AK and McNamara DG: Characteristic cardiovascular anomalies of XO Turner syndrome. XX and XY phenotype and XO/XX Turner mosaic. Am J Cardiol 25:639, 1970.

- Gerald PS: Sex chromosome disorders N. Engl J Med 294:706, 1976.

- Smith AT, Sad GH and Taylor GJ: Holt-Oram syndrome, J Pediatr. 95:538, 1979.