Resumen

MEZA P, Lourdes et al. Sommer syndrome associated with upper limb exclusive Amyoplasia: Apropos of a case. INHRR [online]. 2013, vol.44, n.1, pp.40-45. ISSN 0798-0477.

Introduction: The Cranialfacial Deafness-Hand Syndrome (CDHS) also known as Sommer syndrome, is a rare pathological condition characterized by a mutation in PAX3 (Asn 47 lys) gene. A case of one infant older than 13 months with cranialfacial disorders, neurosensory hearing loss, abnormalities in the hands, and symmetrical amyoplasia of the upper limbs with functional limitation of the scapular waist is here presented. Discussion: Standing on the University of Oxford database,  the diagnosis of a Sommer syndrome is discussed and a clinical-phenotypical correlation with Waanderburg syndrome (type I and III), distal Arthrogryposis syndrome type IV, Amyoplasia congenita, CODAS syndrome; syndrome deafness, cataracts, microstomia, cranialfacial abnormalities and mental retardation; Braegger syndrome, Saethre chotzen syndrome and Lambotte syndrome is performed. Conclusion: The Association with the syndrome of Sommer is confirmed with a unique symmetrical amyoplasia of the upper limbs, compromising the elbow-shoulder: a condition that has not been reported so far in the literature.

Palabras clave : Sommer; Amioplasia; Upper limbs; Hearing loss.

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