Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history

D. Paladini, S. Palmieri, M. Lecora, L. Perone, A. Di Meglio, M. D'Armiento, C. Cascioli, P. Martinelli

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.

Original languageEnglish
Pages (from-to)208-210
Number of pages3
JournalUltrasound in Obstetrics and Gynecology
Volume7
Issue number3
Publication statusPublished - Mar 1996

Fingerprint

Prenatal Diagnosis
History
histories
fetuses
Fetus
Amniocentesis
Fetal Growth Retardation
congenital anomalies
Centromere
Cleft Lip
Cleft Palate
Metaphase
heart diseases
Cytogenetics
Heart Diseases
lymphocytes
Parturition
Lymphocytes
markers
Roberts Syndrome

Keywords

  • Chromosome
  • Face
  • Heart disease
  • Prenatal diagnosis
  • Roberts syndrome
  • Skeleton
  • Ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Reproductive Medicine
  • Acoustics and Ultrasonics
  • Radiological and Ultrasound Technology

Cite this

Paladini, D., Palmieri, S., Lecora, M., Perone, L., Di Meglio, A., D'Armiento, M., ... Martinelli, P. (1996). Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. Ultrasound in Obstetrics and Gynecology, 7(3), 208-210.

Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. / Paladini, D.; Palmieri, S.; Lecora, M.; Perone, L.; Di Meglio, A.; D'Armiento, M.; Cascioli, C.; Martinelli, P.

In: Ultrasound in Obstetrics and Gynecology, Vol. 7, No. 3, 03.1996, p. 208-210.

Research output: Contribution to journalArticle

Paladini, D, Palmieri, S, Lecora, M, Perone, L, Di Meglio, A, D'Armiento, M, Cascioli, C & Martinelli, P 1996, 'Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history', Ultrasound in Obstetrics and Gynecology, vol. 7, no. 3, pp. 208-210.
Paladini D, Palmieri S, Lecora M, Perone L, Di Meglio A, D'Armiento M et al. Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. Ultrasound in Obstetrics and Gynecology. 1996 Mar;7(3):208-210.
Paladini, D. ; Palmieri, S. ; Lecora, M. ; Perone, L. ; Di Meglio, A. ; D'Armiento, M. ; Cascioli, C. ; Martinelli, P. / Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. In: Ultrasound in Obstetrics and Gynecology. 1996 ; Vol. 7, No. 3. pp. 208-210.
@article{1bd809f5b9fa416a9840fce1d09fca09,
title = "Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history",
abstract = "A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.",
keywords = "Chromosome, Face, Heart disease, Prenatal diagnosis, Roberts syndrome, Skeleton, Ultrasound",
author = "D. Paladini and S. Palmieri and M. Lecora and L. Perone and {Di Meglio}, A. and M. D'Armiento and C. Cascioli and P. Martinelli",
year = "1996",
month = "3",
language = "English",
volume = "7",
pages = "208--210",
journal = "Ultrasound in Obstetrics and Gynecology",
issn = "0960-7692",
publisher = "John Wiley and Sons Ltd",
number = "3",

}

TY - JOUR

T1 - Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history

AU - Paladini, D.

AU - Palmieri, S.

AU - Lecora, M.

AU - Perone, L.

AU - Di Meglio, A.

AU - D'Armiento, M.

AU - Cascioli, C.

AU - Martinelli, P.

PY - 1996/3

Y1 - 1996/3

N2 - A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.

AB - A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.

KW - Chromosome

KW - Face

KW - Heart disease

KW - Prenatal diagnosis

KW - Roberts syndrome

KW - Skeleton

KW - Ultrasound

UR - http://www.scopus.com/inward/record.url?scp=0030103158&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030103158&partnerID=8YFLogxK

M3 - Article

C2 - 8705416

AN - SCOPUS:0030103158

VL - 7

SP - 208

EP - 210

JO - Ultrasound in Obstetrics and Gynecology

JF - Ultrasound in Obstetrics and Gynecology

SN - 0960-7692

IS - 3

ER -