caa a22 4500 445309407 CHVBK 20180317142624.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00404-011-1910-1 doi (NATIONALLICENCE)springer-10.1007/s00404-011-1910-1 Antenatal three-dimensional sonographic features of Roberts syndrome [Elektronische Daten] [Daisy Dulnuan, Megumi Matsuoka, Emiko Uketa, Keiji Hayashi, Jun Murotsuki, Gen Nishimura, Toshiyuki Hata] Introduction: We present a fetus whose characteristics most likely represent Roberts syndrome. Case report: Prenatal diagnosis at 21weeks and 1day 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. Springer-Verlag, 2011 3D ultrasound nationallicence antenatal diagnosis nationallicence Roberts syndrome nationallicence 3D CT nationallicence Dulnuan Daisy Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut Matsuoka Megumi Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut Uketa Emiko Department of Obstetrics and Gynecology, Uchinomi Hospital, 44-95 Katashiro-Kou, Shoudoshima-cho, Shouzu-gun, 761-4431, Kagawa, Japan aut Hayashi Keiji Department of Obstetrics and Gynecology, Uchinomi Hospital, 44-95 Katashiro-Kou, Shoudoshima-cho, Shouzu-gun, 761-4431, Kagawa, Japan aut Murotsuki Jun Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Tohoku University Graduate School of Medicine, 4-3-17 Ochiai, Aoba-ku, 989-3126, Sendai, Miyagi, Japan aut Nishimura Gen Department of Pediatric Radiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu-shi, 183-8561, Tokyo, Japan aut Hata Toshiyuki Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut Archives of Gynecology and Obstetrics Springer-Verlag 284/1(2011-07-01), 241-244 0932-0067 284:1<241 2011 284 404 https://doi.org/10.1007/s00404-011-1910-1 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00404-011-1910-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dulnuan Daisy Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut NATIONALLICENCE 700 1- Matsuoka Megumi Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut NATIONALLICENCE 700 1- Uketa Emiko Department of Obstetrics and Gynecology, Uchinomi Hospital, 44-95 Katashiro-Kou, Shoudoshima-cho, Shouzu-gun, 761-4431, Kagawa, Japan aut NATIONALLICENCE 700 1- Hayashi Keiji Department of Obstetrics and Gynecology, Uchinomi Hospital, 44-95 Katashiro-Kou, Shoudoshima-cho, Shouzu-gun, 761-4431, Kagawa, Japan aut NATIONALLICENCE 700 1- Murotsuki Jun Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Tohoku University Graduate School of Medicine, 4-3-17 Ochiai, Aoba-ku, 989-3126, Sendai, Miyagi, Japan aut NATIONALLICENCE 700 1- Nishimura Gen Department of Pediatric Radiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu-shi, 183-8561, Tokyo, Japan aut NATIONALLICENCE 700 1- Hata Toshiyuki Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, 761-0793, Kagawa, Japan aut NATIONALLICENCE 773 0- Archives of Gynecology and Obstetrics Springer-Verlag 284/1(2011-07-01), 241-244 0932-0067 284:1<241 2011 284 404 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer