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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

CARES B, CAROLINA  y  ARAVENA C, TERESA. Poland, Goldenhar, Moebius, Klippel-Feil Syndrome: A Clinical Case. Rev. chil. pediatr. [online]. 2010, vol.81, n.1, pp.53-57. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062010000100007.

Poland Syndrome is a congenital defect characterized by a unilateral absence of the clavicular and stem costal portion of the pectoral muscles associated to abnormalities of other muscles of the thoracic wall, ribs, breast and upper extremity. It is found in one of 20 to 32 thousand newborns. It is found sometimes associated to other syndromes, most often with Moebius Syndrome, and rarely with Goldenhar and Klippel-Feil. Due to the association, a common pathogenic cause has been postulated, that being an anomaly of vascularization during embryonic development. Clinical Case: A newborn male was seen who presented with Poland, Goldenhar, Moebius and Klippel-Feil Syndromes. Clinically, he presented left hemi facial microsomy, microtia, shortening and paralysis of the facial nerve; his neck was short and movement was limited due to C4-C5 fusion; agenesis of left pectorals, hypoplasia of left radius and hand. There were no known additional family cases, being thus, a sporadic syndromatic association.

Palabras clave : Syndromatic association; Poland Syndrome; Goldenhar Syndrome; Moebius Syndrome; Klippel-Feil Syndrome.

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