Caudal Regression Syndrome
Drs Chillis, Farine, Morrow, Ritchie, Ryan; Lynn Salvador RDMS RDCS 01 January 2001
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
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
Title: In: Human Malformations and Related Anomalies Volume 2
Author: Stevenson R, Hall J, Goodman R
Journal: Oxford U Press: Oxford, p497
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
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
Title: In: Prenatal Diagnosis of Congenital Anomalies
Author: Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins J
Journal: Appleton & Lange: Norwalk, p137
Title: In: The Genetics of Renal Tract Disorders
Author: Crawfurd M d'A
Journal: Oxford University Press: New York/Oxford, p536-553
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
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
Title: Caudal duplication syndrome.
Author: Dominguez R, Rott J, Castillo M, et al.
Journal: Am J Dis Child 147:1048-1052.
Title: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal
Author: Heij HA, Nievelstein RA, de Zwart I, Verbeeten BW, Valk J, Vos A.
Journal: Arch Dis Child May;74(5):441-4.
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
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
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
Title: Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic
Author: Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E.
Journal: Hum Reprod Update Jan-Feb;5(1):82-6
Interruption of lower distal lumbar spine
Abnormal lower limb position or movement - or development
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
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.
Bilateral renal agenesis (Potter's Syndrome)
Extra bisatellited minute chromosome (probably derivative 22, one case)
Posterior urethral valve syndrome
Vitamin A teratogenicity