Introduction:

Holt-Oram syndrome is a low frequency hereditary disease, with wide clinical heterogeneity. Characterized by skeletal defect in the upper limbs of variable and asymmetric degree, associated with congenital heart disease.

Case presentation:

a four-year-old boy was presented, a male with a clinical diagnosis of Holt-Oram Syndrome, who presents shortening of the left upper limb, congenital heart disease and esophageal atresia, the first affected in his family, so it was considered that it occurred by new mutation.

Conclusions:

due to the unusual occurrence of this syndrome associated with digestive malformation, it was difficult to reach the clinical diagnosis, where the clinical or pattern method was of great value to define the case. It was necessary to consult the case with other researchers, without being able to carry out a molecular study. Considering it is important to reach the clinical diagnosis of the genetic disease to provide adequate genetic counseling to this family.

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