Townes Syndrome

Abstract

An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.

Non‐cardiac malformations in individuals with outflow tract defects of the heart: The Baltimore‐Washington infant study (1981–1989)

“…ported with CVM in 10-15% of unselected cases [Kotzot et al, 19921. Two patients with Townes-Brocks syndrome were reported to have TOF [Hersh et al, 1986;Kotzot et al, 19921, one had truncus arteriosus and VSD [Barakat et al, 19881.…”

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum

“…There is wide variation in the malformations of these three systems, and a number of other organs can be involved. However, in the lit-erature [Townes and Brocks, 1972;Silver et al, 1972;Reid andTurner, 1976, 1977;Townes, 1977;Pinsky, 1977;Kurnit et al, 1978;Walpole and Hockey, 1982;Moeschler and Clarren, 1982;Monteiro de Pina-Neto, 1984;Fraser and Cooper, 1985;Aylsworth, 1985;Hersh et al, 1986;Friedman et al, 1987;Barakat et al, 1988;DeVries-Van der Weerd et al, 1988;Johnson and Sherman, 1989;Ferraz et al, 1989;Saal et al, 1990;Konig et al, 1990;O'Callaghan andYoung, 1990, Blackston et al, 1991;Cameron et al, 1991;Il'ina and Laziuk, 1992;Kotzot et al, 1992;Lenz, 1993;Gabrielli et al, 1993;Serville et al, 19931, there is little emphasis on the craniofacial manifestations of this syndrome nor of its occasional resemblance to Goldenhar/oculoauriculovertebral spectrum (G/OAVS) [Cohen et al, 19891. In this report, we describe a family with overlapping findings of TBS and G/OAVS.…”

Townes-Brocks-Syndrom

“…In der Mehrzahl (88 %) handelt es sich um Familiendarstellungen ü ber 2-4 Generationen mit autosomal-dominantem Erbgang mit vollstä ndiger Penetranz und variabler Expressivitä t [1,3,6,8,10,14,17,19,20,24]. In der Mehrzahl (88 %) handelt es sich um Familiendarstellungen ü ber 2-4 Generationen mit autosomal-dominantem Erbgang mit vollstä ndiger Penetranz und variabler Expressivitä t [1,3,6,8,10,14,17,19,20,24].…”

“…Kardiale Mißbildungen wie ASD, VSD, Fallot-Tetralogie, Pulmonalatresie, Truncus arteriosus und totale Lungenvenenfehlmü ndung finden sich meist nur in Einzelfalldarstellungen [3,5,8,12,13,15,16].…”

“…11 Patienten ( [4,8,9,13,16,26], eigene Beobachtungen) wiesen eine psychomotorische Retardierung oder eine verzö gerte Sprachentwicklung infolge der Schwerhörigkeit auf. Sieben Fä lle wurden als normal intelligent eingestuft.…”