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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249


LARRANDABURU, Mariela et al. Síndrome de pterigium múltiple: recurrencia en una familia. Arch. Pediatr. Urug. [online]. 2009, vol.80, n.4, pp.284-290. ISSN 1688-1249.

A recurrent and familiar case of pterygium multiple syndrome with particular clinical features is presented. This description comes after the article “Escobar syndrome: a case report” in order to show the phenotypic and genotypic heterogeneity of these cases. A preliminary diagnosis was made at 5 days of age in the first child of the couple; the definitive diagnosis was made at 2 months of age. The patient lived 8 months with malnutrition, blindness, developmental delay and chronic renal pathology. Clinical manifestations included joint contractures; elbow, armpit and popliteal region pterygium; dorsal kyphosis; cubital deviation of hands; club foot deformity; low outer ear and micrognathia. The preliminary diagnosis of the second child was ecographic, at 20 weeks of gestation by Hypokinesia fetal and joint contracture. The pregnancy was ended at 21 weeks. The anatomy pathology confirmed the ecographic findings with a phenotype very similar to the first case.


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