Introduction:

Popliteal pterygium syndrome is a rare autosomal dominant disease resulting from a mutation in the IRF6 gene (1q32.2-q32.3).

Objective:

Inform the medical community about the diagnosis of a patient with popliteal pterygium syndrome.

Case Presentation:

The case of a 4-month-old girl treated at "Paquito González Cueto" University Pediatric Hospital of Cienfuegos is presented, with continuity solution that extends from the upper lip to the soft palate, as well as other alterations at the genital level, with the absence of labia majora and minora and a fibrotic band (pterygium) in the left lower limb that gives the impression of a short limb in comparison with the right. From the specialty of pediatric maxillofacial surgery, after having diagnosed a fissure of the lip and complete bilateral palate, the protocolized procedures were carried out for this type of patients, which include surgical corrections of orofacial malformations.

Conclusions:

On this occasion, it was possible to corroborate that no matter how rare some entities may be, they can be presented, so we must keep them in mind when raising the different differential diagnoses, in order to treat them properly.

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