Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


Total: 4

                       


(per page)
PMID (PMCID)
14755408
 FEMALE Adult
Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.
Chen CP, Chern SR, Lee CC, Chang TY, Wang W, Tzen CY.
Prenat Diagn. 2004;24(1):38-44.
Phenotypic findings included tetralogy of Fallot, hypertelorism, micrognathia, abnormal ears, duplicated phalanges of the left thumb, clinodactyly, and overlapping of the toes.
1887854
 MALE
Trisomy 14 mosaicism in a 5-year-old boy.
Vachvanichsanong P, Jinorose U, Sangnuachua P.
Am J Med Genet. 1991;40(1):80-3.
We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes.
2333881
 MIXED_SAMPLE Infant
Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
Farag TI, Teebi AS.
Am J Med Genet. 1990;35(4):516-8.
We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot.
2333881
 MIXED_SAMPLE Infant
Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
Farag TI, Teebi AS.
Am J Med Genet. 1990;35(4):516-8.
An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot.