Rapid Communication| Volume 44, ISSUE 2, e13-e16, February 2009

Anorectal malformation and Down's syndrome in monozygotic twins


      Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental. We describe here a very rare case of monozygotic twins born with the association of ARM and Down's syndrome.

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        • Cuschieri A.
        • EUROCAT Working Group
        Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.
        Am J Med Genet. 2001; 103: 207-215
        • Torres R.
        • Levitt M.A.
        • Tovilla J.M.
        • et al.
        Anorectal malformations and Down syndrome.
        J Pediatr Surg. 1998; 33: 194-197
        • Pinsky L.
        Syndromology of anorectal malformation (atresia, stenosis, ectopia).
        Am J Med Genet. 1978; 1: 461-474
        • Boocock G.R.
        • Donnai D.
        Anorectal malformation: Familial aspects and associated anomalies.
        Arch Dis Child. 1987; 62: 576-579
        • Weinstein E.D.
        Sex-linked imperforate anus.
        Pediatrics. 1965; 35: 715-717
        • Van Gelder D.W.
        • Kloepfer H.W.
        Familial anorectal anomalies.
        Pediatrics. 1961; 27: 334-336
        • Cozzi F.
        • Wilkinson A.W.
        Familial incidence of congenital anorectal anomalies.
        Surgery. 1968; 64: 669-671
        • Kaijser K.
        • Malmström-Groth A.
        Anorectal abnormalities as a congenital familial incidence.
        Acta Paediat. 1957; 46: 199-200
        • Landau D.
        • Mordechai J.
        • Karplus M.
        • Carmie R.
        Inheritance of familial congenital isolated anorectal malformations: case report and review.
        Am J Med Genet. 1997; 71: 280-282
        • Kubiak R.
        • Upadhayay V.
        Isolated imperforate anus in monozygotic twins: case report and implications.
        J Pediatr Surg. 2005; 40: E1-E4
        • Lerone M.
        • Bolino A.
        • Martucciello G.
        The genetics of anorectal malformations: a complex matter.
        Semin Pediatr Surg. 1997; 6: 170-179
        • Schwoebel M.G.
        • Hirsig J.
        • Schintzel A.
        • et al.
        Familial incidence of congenital anorectal anomalies.
        J Pediatr Surg. 1984; 19: 179-182
        • Doyle P.E.
        • Beral V.
        • Botting B.
        • et al.
        Congenital malformations in twins in England and Wales.
        J Epidemiol Community Health. 1990; 45: 43-48
        • Feggetter S.
        Imperforated anus in identical twins.
        Newcastle Med J. 1939; 19: 20-21
        • Redman J.F.
        • Seibert J.J.
        • Page B.C.
        Cloacal exstrophy in identical twins.
        Urology. 1981; 17: 73-74
        • Lee D.H.
        • Cottrell J.R.
        • Sanders R.C.
        • et al.
        OEIS complex (omphalocele-exstrophy-imperforated anus-spinal defects) in monozygotic twins.
        Am J Med Genet. 1999; 84: 29-33
        • Martinez-Frias M.L.
        • Frias J.L.
        • Opitz J.M.
        Errors of morphogenesis and developmental field theory.
        Am J Med Genet. 1998; 76: 291-296
        • Matias A.
        • Montenegro N.
        • Blickstein I.
        Down syndrome screening in multiple pregnancies.
        Obstet Gynecol Clin North Am. 2005; 32: 81-96
        • Cleary-Goldman J.
        • Berkowitz R.L.
        First trimester screening for Down syndrome in multiple pregnancy.
        Semin Perinatol. 2005; 29: 395-400
        • Zlotogora J.
        • Abu-Dalu K.
        • Lernau O.
        • et al.
        Anorectal malformation and Down syndrome.
        Am J Med Genet. 1989; 34: 330-331
        • Pena A.
        Anorectal malformations.
        Semin Pediatr Surg. 1995; 4: 35-37
        • Mandhan P.
        • Sullivan M.
        • Qwuan Q.B.
        • Beasley S.
        The contribution of the sonic hedgehog cascade in the development of the enteric nervous system in fetal rats with anorectal malformations.
        J Pediatr Surg. 2007; 42: 2080-2085
        • Mo R.
        • Kim J.H.
        • Zhang J.
        • et al.
        Animal model: Anorectal malformation caused by defects in sonic hedgehog signaling.
        Am J Pathol. 2001; 159: 765-774