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Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies
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In the citing paper
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [26]
In the citing paper
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [26]
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Research works printed but not linked: 22
- Norris, 1949, Imperforate anus, Surg. Gynecol. Obstet., 88, 623
- Moore, 1952, Congenital malformation of the rectum and anus. I. Clinical features and surgical management in 120 cases, Surgery, 32, 352
- Woolam, 1964, Congenital anomalies of the anus and rectum, Mayo Clin. Proc., 39, 866
- Cozzi, 1968, Familial incidence of congenital anorectal anomalies, Surgery, 64, 669
- Tunte, 1969, Analatresie bei Zwillingen, Z. Kinderheilkd., 105, 21, 10.1007/BF00439015 · DOI
- Weinstein, 1965, Sex-linked imperforate anus, Pediatrics, 35, 715, 10.1542/peds.35.4.715 · DOI
- Suckling, 1949, Familial incidence of congenital abnormalities of the anus and rectum, Arch. Dis. Child., 24, 75, 10.1136/adc.24.117.75 · DOI
- VanGelder, 1961, Familial anorectal anomalies, Pediatrics, 27, 334, 10.1542/peds.27.2.334 · DOI
- Kaijser, 1957, Anorectal abnormalities as a congenital familial incidence, Acta Pediatr., 46, 199, 10.1111/j.1651-2227.1957.tb08645.x · DOI
- Altmann, 1951, Malformations of the auricle and external auditory meatus—a critical review, Arch. Otolaryngol., 54, 115, 10.1001/archotol.1951.03750080003001 · DOI
- Swanson, 1962, Hereditary triphalangeal thumb, J. Hered., 53, 259, 10.1093/oxfordjournals.jhered.a107190 · DOI
- Holt, 1960, Familial heart disease with skeletal malformations, Br. Heart J., 22, 236, 10.1136/hrt.22.2.236 · DOI
- Holmes, 1965, Congenital heart disease and upper-extremity deformities. A report of two families, N. Engl. J. Med., 272, 437, 10.1056/NEJM196503042720901 · DOI
- Diamond, 1961, Congenital (erythroid) hypoplastic anemia: A 25 year study, Am. J. Dis. Child., 102, 403, 10.1001/archpedi.1961.02080010405019 · DOI
- Minagi, 1966, Roentgen appearance of anomalies associated with hypoplastic anemias of childhood, Am. J. Roentgenol., 97, 100, 10.2214/ajr.97.1.100 · DOI
- Aase, 1969, Congenital anemia and triphalangeal thumbs: A new syndrome, J. Pediatr., 74, 471, 10.1016/S0022-3476(69)80208-8 · DOI
- Qazi, 1970, Triphalangy of thumbs and great toes, Am. J. Dis. Child., 120, 255
- Stewart, 1971, Familial hand abnormality and sensori-neural deafness: A new syndrome, J. Pediatr., 78, 102, 10.1016/S0022-3476(71)80270-6 · DOI
- Say, 1968, A new polydactyly/imperforate anus/vertebral anomalies syndrome, Lancet, 2, 688, 10.1016/S0140-6736(68)92549-X · DOI
- Tunte, 1968, A new polydactyly/imperforate-anus/vertebral-anomalies syndrome, Lancet, 2, 1081, 10.1016/S0140-6736(68)91557-2 · DOI
- Millard, 1969, The polydactyly/imperforate-anus/vertebral-anomalies syndrome, Lancet, 1, 156, 10.1016/S0140-6736(69)91170-2 · DOI
- Searle, 1964, The genetics and morphology of two ‘luxoid’ mutants in the house mouse, Genet. Res., 5, 171, 10.1017/S0016672300001166 · DOI
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Umesh, G., Varghese, E., Ellango, A., & Prabhu, R. (2009) · Paediatric anaesthesia · doi:10.1111/j.1460-9592.2008.02901.x · Cited by 3
Rosenblum, N. D., & Gupta, I. R. (2016) · Springer eBooks · doi:10.1007/978-3-662-52972-0_10 · Cited by 4
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
Fang, J., Zhang, J.-S., Wang, M.-M., & Liu, L. (2022) · World Journal of Clinical Cases · doi:10.12998/wjcc.v10.i20.7068 · Cited by 2
Gene expression analysis of the Xenopus laevis early limb bud proximodistal axis
Hudson, D. T., Bromell, J. S., Day, R. C., McInnes, T., Ward, J. M., & Beck, C. W. (2022) · Developmental Dynamics · doi:10.1002/dvdy.517 · Cited by 4
“The phenotype includes extra thumbs, radial dysplasia and foot deformities (Townes and Brocks, 1972) which suggests a role in anterior-posterior limb axis patterning of the autopod and zeugopod.”
BackgroundWarrington, N. M., Shevroja, E., Hemani, G., Hysi, P. G., Jiang, Y., Auton, A., Boer, C. G., Mangino, M., Wang, C. A., Kemp, J. P., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy121 · Cited by 52
“abnormally shaped ears and anal atresia, among other genital malformations (70).”
Townes, P. L. (1977) · Jornal de Pediatria · doi:10.1016/s0022-3476(77)80680-x · Cited by 2
Self-citationChapter 9 – Genetic and Epigenetic Regulation of Nephron Number in the Human
Cosgrove, M., & Goodyer, P. (2016) · doi:10.1016/b978-0-12-800102-8.00009-6 · Cited by 2
Rosenblum, N. D., & Salomon, R. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-04883-5.50013-1 · Cited by 2
A catalogue of multiple congenital anomaly syndromes
Winter, R. M., & Baraitser, M. (1991) · Springer eBooks · doi:10.1007/978-1-4899-3109-2_1 · Cited by 3
Heritable Malformations of the Kidney and Urinary Tract
Gilbert‐Barness, E., Opitz, J. M., & Barness, L. A. (1990) · Springer eBooks · doi:10.1007/978-1-4613-1603-9_17 · Cited by 1
Two Novel Mutations in SALL1 Cause Townes-Brocks-Like Syndrome: New Findings from an Old Case
Sun, G.-L., Bove, K., Zou, F., Mathur, A., Husami, A., Denton, J., Mulliken, J., Zhang, K.-J., Huang, T.-S., & Valencia, C. (2019) · doi:10.33425/2689-1077.1001 · Cited by 1
“manner as CNS-TBS, first described in 1972 by Townes and others [10-13].”
BackgroundGilbert, F. (1999) · Genetic Testing · doi:10.1089/gte.1999.3.243 · Cited by 2
König, R., Schick, U., & Fuchs, S. (1990) · European Journal of Pediatrics · doi:10.1007/bf02072048 · Cited by 1
Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
da Graça, M. R. M., Garcias, G. D. L., & Ferreira, F. L. S. (1996) · doi:10.1590/s0100-84551996000400018 · Cited by 1
Tetramerisation governs SALL transcription factor function in development and disease
Giuliani, S., Chhatbar, K., Wear, M., Guy, J., Mathieson, T., Burdett, H., George, L., Alston, G., Spanos, C., McHugh, T., et al. (2025) · bioRxiv · doi:10.1101/2025.10.27.684836
The case number 130 of Townes Brocks syndrome
Al-Mosawi, A. J. (2019) · Clinical Research and Trials · doi:10.15761/crt.1000286
“Townes Brocks syndrome is a very rare genetic syndrome with 129 well-documented patients reported in the medical literature [1,2].”
BackgroundTownes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report
Chang, Y., Yang, L.-S., Zhang, Z., Zhang, H., & Xue, F. (2026) · Clinical, Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s603309
Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report
Tsunoda, S., Kurihara, S., Ueno, T., Oba, Y., Sekine, A., Mizuno, H., Yamanouchi, M., Hasegawa, E., Suwabe, T., Kono, K., et al. (2026) · Kidney Medicine · doi:10.1016/j.xkme.2026.101335
Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure
Ürkmez, M. F., Kumru, G., Mutlu, Ş., Sarıtaş, H., Şengül, Ş., Keven, K., & Altıner, Ş. (2026) · CEN Case Reports · doi:10.1007/s13730-025-01046-6
“Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder first described in 1972, typically characterized by a triad of imperforate anus, dysplastic ears, and thumb anomalies [1].”
Paripović, A., Jankovic, A., Ilić, N., Ostojić, S., Todorović, S., Radivojevi'c, D., Pejovic, B., Naumović, R., & Sarajlija, A. (2025) · Balkan Journal of Medical Genetics · doi:10.2478/bjmg-2025-00016
Impaired fertility and sexual function in patients with anorectal malformations
Pimenova, E. S., Korolev, G., & Romanova, O. (2021) · Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care · doi:10.17816/psaic706
Townes-Brocks Syndrome in Barranquilla, Colombia: Case report and state of the art
Sabella-Jiménez, V., Otero-Herrera, C., Berardinelli, R. T., Martínez, G. R., Silvera-Redondo, C., & Garavito-Galofre, P. (2020) · Salud Uninorte · doi:10.14482/sun.35.3.616.042
“DISCUSIÓN Histor ia El TBS fue descrito por primera vez en 1972 por Phillip Townes y Eric Brocks (2) al observar un padre y cinco de sus siete hijos con ano imperforado, pulgares trifalángicos, fusión de metatarsos, pulgares supernumerarios, pulgares bífidos, sordera neurosensorial y deformidades en orejas.”
BackgroundSeo, Y., Lee, K., Jung, M.-K., Kim, G.-H., & Yoo, H. (2015) · doi:10.5734/jgm.2015.12.1.44
“Cytogenetic findings provided the first indication of the causative gene for TBS, and SALL1 was mapped to chromosome Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation Yeon Jeong Seo1, Ko Eun Lee1, Jung Min Ko1,*, Gu-Hwan Kim2, and Han-Wook Yoo2 1Department of Pediat…”
BackgroundInfluentialReiber, J. (2010) · doi:10.18725/oparu-2130
“Auch das Townes-Brocks Syndrom (TBS, TB-Syndrom, OMIM 107480) ist eine autosomal-dominant vererbte Erkrankung mit multiplen Fehlbildungen und variabler Expression und wurde zum ersten Mal von Townes und Brocks 1972 beschrieben [212].”
Background人工内耳埋め込み術を行った Townes-Brocks症候群の 1 例
平井, 美., 福島, 邦., 片岡, 祐., 長安, 吏., 前田, 幸., 假谷, 伸., & 西﨑, 和. (2009) · doi:10.11374/shonijibi.30.222
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia.
Bhat, R. Y., & Sen, S. (2008) · Saudi Medical Journal · doi:10.15537/1658-3175.4473
Pereira, T., & Filipe, B. (2020) · doi:10.17169/refubium-26726
Mundlos, S., & Horn, D. (2014) · doi:10.1007/978-3-540-95928-1_17
Townes-Brocks syndrome with overlapping features of hemifacial microsomia
Guruprasad, Y., & Chauhan, D. (2013) · doi:10.4103/0975-8844.113693
“[7] There is often a rectovaginal or rectourethral fistula.”
BackgroundBateman, J., & Isenberg, S. J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00148-8 · Cited by 1
Lin, F., Patel, V., & Igarashi, P. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-449851-8.00027-9 · Cited by 1
Differential Diagnosis of Single Skeletal Defects
Schumacher, R., Seaver, L., & Spranger, J. (2004) · doi:10.1007/978-3-662-05374-4_3
HIPOACUSIA EN EL SÍNDROME DE TOWNES-BROCKS
Asensio, J. R., Rodríguez-Rosell, M. V., & Pérez, A. (2003) · doi:10.1016/s0001-6519(03)78444-1
Case Study — Putting It All Together
Cahill, V., & Lafferty, D. (2002) · doi:10.1007/978-1-4471-0115-4_14
Metadata
- Authors
- Townes, P. L., & Brocks, E. R.
- Affiliations
- University of Rochester Medicine (US)
- Corresponding author
- Townes, Philip L.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1972-08
- Volume
- 81
- Issue
- 2
- Pages
- 321-326
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2017924606
- Cited by
- 174
- References
- 28
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 3 · 2023: 2 · 2022: 6 · 2021: 3 · 2019: 6 · 2018: 2 · 2017: 5 · 2016: 4 · 2015: 6 · 2014: 2 · 2013: 4 · 2012: 3
- FWCI
- 1.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
- Health Sciences › Medicine › Genetics (clinical) › Congenital Ear and Nasal Anomalies
- Keywords
- imperforate anus, autosomal dominant syndrome, triphalangeal thumb, hand anomalies, foot anomalies, sensorineural hearing loss, genetic syndromes, congenital malformations
- MeSH terms
- Abnormalities, Multiple, Adult, Anus, Imperforate, Bone and Bones, Child, Child, Preschool, Deafness, Ear, External, Female, Foot Deformities, Congenital, Genes, Dominant, Hand Deformities, Acquired, Humans, Infant, Newborn, Male, Mutation, Pedigree, Syndrome, Thumb
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