Table 1.
Prenatal ultrasound features of caudal regression syndrome: the findings observed in our series are italics.
| First trimester | (i) Abnormal appearance of the yolk sac2 (ii) Shorter CRL than expected for the gestational age2 (iii) Increased nuchal translucency2 (iv) Sacral agenesis2 |
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| Second and third trimester | Spine: (i) Partial or complete absence of sacrum and sacral vertebrae2 (ii) Scoliosis and kyphosis1 (iii) Abnormal vertebral ossification (iv) Decreased interspace between femoral heads1 Limbs: (i) Clubfeet1 (ii) Flexion contractures of the lower extremities1 (iii) Syndactyly/polydactyly1 CNS: (i) Spina bifida, meningocele, or myelomeningocele1 (ii) Hydrocephaly2 (iii) Microcephaly, anencephaly, or holoprosencephaly1 Face: (i) Pierre Robin syndrome1 (ii) Facial clefts1 Cardiac: (i) Ventricular septal defect1 (ii) Transposition of great vessels1 (iii) Dextrocardia1 (iv) Coarctation of the aorta1 GU tract: (i) Renal agenesis1 (ii) Renal dysplasia1 (iii) Hydronephrosis1 (iv) Dilated/ectopic ureters1 (v) Ambiguous genitalia, hypospadias1 (vi) Vesical/cloacal exstrophy1 (vii) Absent bladder1 (viii) Enlarged and thick-walled bladder GI tract: (i) Abdominal wall defect1 |