Abstract
Introduction
We present a fetus whose characteristics most likely represent Roberts syndrome.
Case report
Prenatal diagnosis at 21 weeks and 1 day age of gestation was made employing conventional two-dimensional (2D) sonography, showing shortened upper and lower extremities. An umbilical cord cyst was also noted. Three-dimensional (3D) sonography revealed additional abnormalities which included bilateral hypoplastic and proximal implantation of the thumb, exophthalmic eyes, and suspected cleft lip. Shortened upper extremities, contracted legs, and an umbilical cord cyst were also clearly confirmed. Transparent X-ray mode uncovered the absence of radial and ulnar bones. Subtle fetal structures were readily discernible with 3D sonography so that the family could understand the fetal condition in utero. They underwent counseling, and opted for termination of the pregnancy. The sonographic findings were confirmed after delivery, supported by a 3D computed tomographic skeletal survey.
Conclusion
To the best of our knowledge, this is the first report of Roberts syndrome employing antenatal 3D sonographic imaging.
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References
Stioui S, Priviteria O, Brambati B, Zuliani G, Lalatta F, Simoni G (1992) First-trimester prenatal diagnosis of Roberts Syndrome. Prenat Diagn 12:145–149
Allington-Hawkins DJ, Tomskin DJ (1991) Somatic cell hybridization of Roberts syndrome and normal lymphoblast resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes. Som Cell Mol Genet 17:455–462
Rodriguez JI, Urioste M, Rodriguez-Peralto JL (1992) Tetraphocomelia with multiple malformations: X-linked Amelia or Roberts syndrome or DK-phocomelia syndrome? Am J Med Genet 43:630–631
Otano L, Matayoshi T, Gadow E (1996) Roberts syndrome: first-trimester prenatal diagnosis. Prenat Diagn 20:770–771
Feingold M (1994) History of C-Patient with SC-Roberts/pseudothalidomide syndrome. Am J Med Genet 43:898–899
Gruber A, Rabinerson D, Kaplan B, Ovadia Y (1994) Prenatal diagnosis of Roberts syndrome. Prenat Diagn 14:511–512
Benzacken B, Savary JB, Manouvrier S, Buccort M, Gonzales J (1996) Prenatal diagnosis of Roberts syndrome: two new cases. Prenat Diagn 16:125–130
Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P (2008) Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. Prenat Diagn 28:42–45
McDaniel LD, Prueitt R, Probst LC (2000) Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. Am J Med Genet 93:223–229
Kennelly MM, Moran P (2007) A clinical algorithm of prenatal diagnosis of radial ray defects with two- and three-dimensional ultrasound. Prenat Diagn 27:730–737
Leite JM, Granese R, Jeanty P, Herbst SS (2008) Fetal syndrome. In: Callen PW (ed) Ultrasonography in obstetrics and gynecology, 5th edn. Saunders Elsevier, Philadelphia, pp 166–180
Grudy H, Burlbaw J, Walton S, Dannar C (1988) Robert syndrome: antenatal ultrasound—a case report. J Perinat Med 16:71–75
Smith GN, Walker M, Johnston S, Ash K (1996) The sonographic finding of persistent umbilical cord cyst masses is associated with lethal aneuploidy and/or congenital anomalies. Prenat Diagn 16:141–147
Hata T, Tanaka H, Noguchi J (2010) 3D/4D sonographic evaluation of amniotic band syndrome in early pregnancy: a supplement to 2D ultrasound. J Obstet Gynaecol Res. doi:10.1111/j.1447-0756.2010.01417.x
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Dulnuan, D.J., Matsuoka, M., Uketa, E. et al. Antenatal three-dimensional sonographic features of Roberts syndrome. Arch Gynecol Obstet 284, 241–244 (2011). https://doi.org/10.1007/s00404-011-1910-1
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DOI: https://doi.org/10.1007/s00404-011-1910-1