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Caudal Regression Syndrome

Summary   Ultrasound Features   Differential Diagnoses   Syndromes   Images 5   Show All

Summary Caudal regression syndrome represents a wide spectrum of malformations which ranges from imperforate anus to sirenomelia. It occurs during the third week of fetal development and is caused by a wedge-shaped defect in the posterior axis caudal blastema, causing malformation or fusion of the early lower limb buds. The different degrees of severity are related to different length and width of the early caudal defect. Sirenomelia has been postulated as occurring in the presence of a single umbilical artery which diverts blood flow from the caudal portion of the embryo, producing malformation of caudal structures. Caudal regression syndrome is more frequent in monozygotic twins and shows a 200-fold increase in diabetic mothers, occurring in 0.2 to 0.5 percent of these infants. The incidence is reported to be approximately one in 47,000 to 60,000 live births. The syndrome includes distorted or absent vertebra below the thoracic level, rudimentary or absent pelvic bones and asymmetrically short lower limbs. Associated malformations include gastrointestinal, genitourinary, and cardiac anomalies.Sonographic diagnosis of caudal regression syndrome has been reported from 17-34 weeks of pregnancy, and is frequently hindered by oligohydramnios. It has been suggested that the diagnosis of caudal regression syndrome includes lumbosacral agenesis of the spine, normal amniotic fluid volume and a three-vessel umbilical cord. Sirenomelia may be diagnosed in the presence of oligohydramnios, bilateral renal agenesis, lower extremity fusion, and a two-vessel cord. Sirenomelia also involves absence of urinary, genital or anal orifices and no external genitalia although a tail or phallus may occasionally be found. Other genitourinary structures such as the bladder may also be missing. There may be missing kidneys or cystic dysplastic kidneys. Amnioinfusion has been helpful in making a diagnosis in some cases with oligohydramnios. Title: A case of partial sirenomelia and possible vitamin A teratogenesis Author: von Lennep E, El Khazen N, De Pierreux G, Amy JJ, Rodesch F, Van Regemorter N Journal: Prenatal Diagnosis 5: 35-40 Year: 1994 Title: In: Diagnostic Ultrasound of Fetal Anomalies: Text and Atlas Author: Nyberg D, Mahony B, Pretorium D Journal: Mosby Year Book: St. Louis, p187-191 Year: 1990 Title: In: Human Malformations and Related Anomalies Volume 2 Author: Stevenson R, Hall J, Goodman R Journal: Oxford U Press: Oxford, p497 Year: 1993 Title: In utero diagnosis of caudal regression s syndrome: report of three cases Author: Loewry JA, Richards DG, and Toi A Journal: J Clin Ultrasound 15: 469 Year: 1987 Title: Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management Author: Adra A, Cordero D, Mejides A, Yasin S, Salman F, O'Sullivan MJ Journal: Ostet Gynecol 49, 508-516 Year: 1994 Title: In: Prenatal Diagnosis of Congenital Anomalies Author: Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins J Journal: Appleton & Lange: Norwalk, p137 Year: 1988 Title: In: The Genetics of Renal Tract Disorders Author: Crawfurd M d'A Journal: Oxford University Press: New York/Oxford, p536-553 Year: 1988 Title: Multidisciplinary management of caudal regression syndrome (26 cases). Author: Cama A, Palmieri A, Capra V, Piatelli GL, Ravegnani M, Fondelli P. Journal: Eur J Pediatr Surg Dec;6 Suppl 1:44-5 Year: 1996 Title: Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spi Author: Cortes D, Thorup JM, Beck BL, Visfeldt J. Journal: APMIS Oct;106(10):953-8 Year: 1998 Title: Caudal duplication syndrome. Author: Dominguez R, Rott J, Castillo M, et al. Journal: Am J Dis Child 147:1048-1052. Year: 1993 Title: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. Author: Heij HA, Nievelstein RA, de Zwart I, Verbeeten BW, Valk J, Vos A. Journal: Arch Dis Child May;74(5):441-4. Year: 1996 Title: Caudal regression syndrome: MR appearance. Author: Hirano H, Tomura N, Watarai J, Kato T. Journal: Comput Med Imaging Graph Jan-Feb;22(1):73-6 Year: 1998 Title: Early detection of caudal regression syndrome: specific interest and findings in three cases. Author: Subtil D, Cosson M, Houfflin V, Vaast P, Valat A, Puech F. Journal: Eur J Obstet Gynecol Reprod Biol Sep;80(1):109-12 Year: 1998 Title: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. Author: Tortori-Donati P, Fondelli MP, Rossi A, Raybaud CA, Cama A, Capra V. Journal: AJNR Am J Neuroradiol Mar;20(3):445-56 Year: 1999 Title: Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Author: Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E. Journal: Hum Reprod Update Jan-Feb;5(1):82-6 Year: 1999 Ultrasound Features Interruption of lower distal lumbar spine Abnormal lower limb position or movement - or development Limb contracture Absence of lower limb movement Deformed foot/feet (clubbed or rocker-bottom) or lower limbs Hypoplasia of sacrum and lower extremities Hip malformation: dislocation or appoximation of both femoral heads with agenesis of the sacrum Oligohydramnios Differential Diagnoses Sacral agenesis includes the absence of the coccyx and sacrum without vertebral anomalies of the lumbosacral spine. VACTERL syndrome shows a wide overlap with caudal regression and may include vertebral, anal, cardiac, oesophageal, renal and limb anomalies. Syndromes Bilateral renal agenesis (Potter's Syndrome) Diabetic embryopathy Extra bisatellited minute chromosome (probably derivative 22, one case) Posterior urethral valve syndrome Vitamin A teratogenicity

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