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      Síndrome de Sommer asociado con Amioplasia exclusiva de miembros superiores: A propósito de un caso Translated title: Sommer syndrome associated with upper limb exclusive Amyoplasia: Apropos of a case


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          Introducción: El Síndrome cráneofacial sordera mano (deafness-hand .CDHS) también conocido como síndrome de Sommer, es una condición patológica poco frecuente caracterizada por una mutación en el gen PAX3 (Asn 47 lys).Se presenta un caso de un lactante mayor de 13 meses de edad con alteraciones craneofaciales, hipoacusia neurosensorial y anormalidades en las manos, que presenta además amioplasia simétrica de los miembros superiores con limitación funcional de la cintura escapular. Discusión: Con apoyo de la base de datos de la Universidad de Oxford se discute el diagnóstico de síndrome de Sommer y se realiza correlación clínica-fenotípica con el síndrome de Waanderburg (tipo I,y III),Artrogriposis distal tipo IV, Amioplasia Congénita, síndrome de CODAS; síndrome sordera, cataratas, microstomía, alteraciones craneofaciales y retardo mental; Síndrome de Braegger, Síndrome de Saethre Chotzen y Síndrome de Lambotte. Conclusión: Se presenta la asociación de Síndrome de Sommer y amioplasia simétrica exclusiva de miembros superiores, con compromiso codo- hombro, condición no reportada hasta ahora.

          Translated abstract

          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.

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          Waardenburg syndrome.

          Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.
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            Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

            Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding protein that contains a structural motif known as the paired domain and is believed to regulate the expression of other genes. In this report we describe two new mutations, in the human PAX3 gene, that are associated with WS. One mutation was found in a family with WS-I, while the other mutation was found in a family with WS-III. Both mutations were in the highly conserved paired domain of the human PAX3 gene and are similar to other mutations that cause WS. The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
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              Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

              Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.

                Author and article information

                Revista del Instituto Nacional de Higiene Rafael Rangel
                Instituto Nacional de Higiene Rafael Rangel (Caracas, DF, Venezuela )
                June 2013
                : 44
                : 1
                : 40-45
                [01] Mérida orgnameUniversidad de los Andes orgdiv1Facultad de Medicina
                S0798-04772013000100006 S0798-0477(13)04400106


                : 02 November 2012
                : 21 June 2013
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 21, Pages: 6

                SciELO Venezuela

                Artículos Originales

                Sommer,Amioplasia,Upper limbs,Hearing loss,Miembros Superiores,Hipoacusia


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