Pierre Robin sequence with H-type tracheoesophageal fistula and congenital heart disease

Author(s):  
Nihat Demir ◽  
Erdal Peker ◽  
Oğuz Tuncer ◽  
Lokman Üstyol ◽  
Keziban Bulan
PEDIATRICS ◽  
1962 ◽  
Vol 30 (3) ◽  
pp. 450-458
Author(s):  
Marvin H. Goldberg ◽  
Roger H. Eckblom

The diagnosis of the Pierre Robin Syndrome, cleft palate, micrognathia, and golssoptosis is re-emphasized. The clinical symptoms are discussed. The treatments advocated in the literature are described. A simple traction device, employing a horizontal suture through the mid-body of the tongue and an elastic traction system, is explained. Five cases of the syndrome are reported. In one the condition was mild; in the other four the tongue traction device was employed. In one sick infant with a congenital heart disease a tracheotomy had to be performed. Much difficulty was experienced following this, and the operation is only recommended when traction alone does not control the handling of the profusion of mucus and bouts of apnea. A removable acrylic palatine obturator was used as an adjunct to nipple feedings in three patients, with excellent results. The method of production of this "false palate" is described.


1992 ◽  
Vol 29 (1) ◽  
pp. 77-79 ◽  
Author(s):  
Robert Wallerstein ◽  
Franklin Desposito ◽  
Hana Aviv ◽  
Maryann Schenk ◽  
Donna F. Wallerstein

1992 ◽  
Vol 29 (1) ◽  
pp. 77-79 ◽  
Author(s):  
Robert Wallerstein ◽  
Franklin Desposito ◽  
Hana Aviv ◽  
Maryann Schenk ◽  
Donna F. Wallerstein

We describe the clinical and cytogenetic findings in a female infant with partial trisomy 11q, Robin sequence, cardiac anomalies, and other minor malformations. We compare the phenotypic similarities of our case to a series by Pihko et al. (1981), who reported on 20 cases with partial trisomy 11q with similar associated craniofacial and cardiac defects. We conclude that genetic etiologies for patients diagnosed with the Robin sequence may be more common than previously believed and that initial karyotyping should be performed to aid both diagnosis and clinical management. In addition, the pattern of Robin sequence and cardiac defects may be specifically suggestive of partial trisomy 11q.


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