Introduction:

Syntelencephaly is a forebrain malformation, which is a variant of holoprosencephaly. Few cases have been published in the Latin American literature.

Case presentation:

Female newborn, daughter of a diabetic mother. Diagnosis of holoprosencephaly is made at 21 weeks’ gestation. At birth, cleft lip and palate, clubfoot, bilateral pyelocaliceal ectasia, and complex congenital heart disease were also detected. Because of the latter, the patient died in the first week of life. Magnetic resonance images compatible with syntelencephaly were identified.

Conclusions:

Patients with syntelencephaly and other congenital multiples have a poor prognosis. Its management should be multidisciplinary, including Genetics specialists.

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