Abstract
A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.
Similar content being viewed by others
References
Aylsworth AS (1985) The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. Am J Hum Genet 37 [Suppl]:A43
Barakat AY, Butler MG, Salter JE, Fogo A (1988) Townes Brocks syndrome: report of three additional patients with previously undescribed renal and cardiac abnormalities. Dysmorphol Clin Genet 2:104–108
Cooper LF, Jabs EW (1987) Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome? J Pediatr 110:747–750
De Vries-Van Der Weerd M-ACS, Willems PJ, Mandema HM, Ten Kate LP (1988) A new family with the Townes-Brocks syndrome. Clin Genet 34:195–200
Ferras FG, Nunes L, Ferraz ME, Sousa JP, Santos M, Carvalho C, Maroteaux P (1989) Townes-Brocks Syndrome. Report of a case and review of the literature. Ann Genet 32:120–123
Fuhrmann W (1968) A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet II:918–919
Fuhrmann W, Rieger A, Vogel F (1958) Zwei Beobachtungen zur Genetik der Atresia ani. Arch Kinderheilkd 158:264–270
Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J (1986) Townes syndrome. Clin Pediatr 25:100–102
Holthusen W, Birtel T, Brinkmann B, Gunkel J, Jannek C, Richter E (1985) Die Currarino-Triade: ein autosomal-dominant erblicher Komplex von anorektaler Mißbildung, Sakrokokzygealdefekt und präsakralem Tumor. Fortschr Röntgenstr 143:83–89
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD (1983) A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 71:815–820
Kurnit DM, Steele MW, Pinsky L, Dibbins A (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 93:270–273
Lowe J, Kohn G, Cohen O, Mogilner M, Schiller M (1983) Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity? Clin Genet 24:191–193
MacDermot KD, Winter RM (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. Am J Med Genet 27:313–319
Moeschler J, Clarren SK (1982) Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 12:371–375
Monteiro de Pina-Neto J (1984) Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 18:147–152
Nutmann J, Nissenkorn I, Varsano I, Mimouni M, Goodman RM (1981) Anal atresia and the Klein-Waardenburg syndrome. J Med Genet 18:239–241
Opitz JM (1987) Editorial comment: G-syndrome (Hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or “Opitz-Frias” or “Opitz-G” syndrome) — Perspective in 1987 and bibliography. Am J Med Genet 28:275–285
Reid IS, Turner G (1976) Familial anal abnormality. J Pediatr 88:992–994
Sammito V, Motta D, Capodieci G, Sanfilippo S, Neri G (1988) IVIC syndrome: report of a second family. Am J Med Genet 29:875–881
Say B, Gerald PS (1968) A new polydactyly/imperforate anus/vertebral anomalies syndrome? Lancet II:688
Say B, Balci S, Pirnar T, Hicsönmez A (1971) Imperforate anus/polydactyly/vertebral anomalies syndrome: A hereditary trait? J Pediatr 79:1033–1034
Schinzel A (1987) Ulnar-mammary syndrome. J Med Genet 24:778–781
Silver W, Steiner M, Schwartz O, Zeichner MB (1972) The Holt-Oram syndrome with previously undescribed associated anomalies. Am J Dis Child 124:911–914
Townes PL, Brocks ER (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81:321–326
Walpole IR, Hockey A (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. J Pediatr 100:250–252
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
König, R., Schick, U. & Fuchs, S. Townes-Brocks syndrome. Eur J Pediatr 150, 100–103 (1990). https://doi.org/10.1007/BF02072048
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02072048