Prenatal diagnosis of Neu-Laxova syndrome: a case report.

Abstract:

:BACKGROUND: Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS) diagnosed prenatally by ultrasound examination. CASE PRESENTATION: A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. CONCLUSION: Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

authors

Aslan H,Gul A,Polat I,Mutaf C,Agar M,Ceylan Y

doi

10.1186/1471-2393-2-1

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

1

issue

1

issn

1471-2393

journal_volume

2

pub_type

杂志文章
  • A multicenter survey on toxoplasmosis knowledge among pregnant women in Poland (the TOWER study).

    abstract:BACKGROUND:The seroprevalence of Toxoplasma gondii ranges widely in different areas of the world and different populations. Although toxoplasmosis is typically benign and asymptomatic, it induces major complications in immunocompromised individuals and during pregnancy. Prevention of maternal primary infection constitu...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究

    doi:10.1186/s12884-018-2031-7

    authors: Smereka J,Szarpak L,Ruetzler K,Schacham Y,Smereka A,Dabrowski M,Terpilowska M,Terpilowski L,Adam I

    更新日期:2018-10-03 00:00:00

  • Vomiting in pregnancy is associated with a higher risk of low birth weight: a cohort study.

    abstract:BACKGROUND:Low birth weight has important short- and long-term health implications. Previously it has been shown that pregnancies affected by hyperemesis gravidarum in the mother are at higher risk of having low birth weight offspring. In this study we tested whether such risks are also evident with less severe nausea ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-018-1786-1

    authors: Petry CJ,Ong KK,Beardsall K,Hughes IA,Acerini CL,Dunger DB

    更新日期:2018-05-04 00:00:00

  • Maternal 27-hydroxycholesterol concentrations during the course of pregnancy and in pregnancy pathologies.

    abstract:BACKGROUND:The oxysterol 27-hydroxycholesterol (27-OHC) plays an important role in the regulation of cholesterol homeostasis. Pregnancy pathologies like preeclampsia (PE), HELLP-syndrome (HELLP), intrauterine growth restriction (IUGR) and intrahepatic cholestasis in pregnancy (ICP) are linked to disturbances in lipid m...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1287-7

    authors: Winkler BS,Pecks U,Najjari L,Kleine-Eggebrecht N,Maass N,Mohaupt M,Escher G

    更新日期:2017-04-04 00:00:00

  • The unmet need for emergency obstetric care in Tanga Region, Tanzania.

    abstract:BACKGROUND:Improving maternal health by reducing maternal mortality constitutes the fifth Millennium Development Goal and represents a key public health challenge in the United Republic of Tanzania. In response to the need to evaluate and monitor safe motherhood interventions, this study aims at assessing the coverage ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-7-16

    authors: Prytherch H,Massawe S,Kuelker R,Hunger C,Mtatifikolo F,Jahn A

    更新日期:2007-08-06 00:00:00

  • Hormone concentrations throughout uncomplicated pregnancies: a longitudinal study.

    abstract:BACKGROUND:Evidence suggests that the hormonal milieu of pregnancy is an important determinant of subsequent cancer and other chronic diseases in both the mother and the offspring. Many of the existing maternity and birth cohorts include specimens drawn only once during pregnancy. How well a single blood specimen colle...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-016-0937-5

    authors: Schock H,Zeleniuch-Jacquotte A,Lundin E,Grankvist K,Lakso HÅ,Idahl A,Lehtinen M,Surcel HM,Fortner RT

    更新日期:2016-07-04 00:00:00

  • Serum magnesium and high-sensitivity C-reactive protein as a predictor for gestational diabetes mellitus in Sudanese pregnant women.

    abstract:BACKGROUND:Gestational diabetes mellitus (GDM) is a big health problem that adversely affects both the maternal and perinatal outcomes. We aimed to predict the development of GDM in the first trimester using high sensitivity C-reactive protein (hs-CRP) and serum magnesium. METHODS:The study conducted in the antenatal ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-019-2429-x

    authors: Naser W,Adam I,Rayis DA,Ahmed MA,Hamdan HZ

    更新日期:2019-08-16 00:00:00

  • Placental vascularization alterations in hypertensive disorders complicating pregnancy (HDCP) and small for gestational age with HDCP using three-dimensional power doppler in a prospective case control study.

    abstract:BACKGROUND:Hypertensive disorders complicating pregnancy (HDCP) continues to be a leading cause of maternal and neonatal mortality and morbidity. The clinical value of placental three-dimensional power Doppler (3DPD) in assessing HDCP requires further confirmation. The research was developed to assess changes of placen...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-015-0666-1

    authors: Yuan T,Zhang T,Han Z

    更新日期:2015-10-05 00:00:00

  • Supporting breastfeeding In Local Communities (SILC): protocol for a cluster randomised controlled trial.

    abstract:BACKGROUND:Breastfeeding is associated with significant positive health outcomes for mothers and infants. However, despite recommendations from the World Health Organization, exclusive breastfeeding for six months is uncommon. Increased breastfeeding support early in the postpartum period may be effective in improving ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/1471-2393-14-346

    authors: McLachlan HL,Forster DA,Amir LH,Small R,Cullinane M,Watson LF,Shafiei T

    更新日期:2014-10-03 00:00:00

  • Histologic chorioamnionitis does not modulate the oxidative stress and antioxidant status in pregnancies complicated by spontaneous preterm delivery.

    abstract:BACKGROUND:Infection induced-inflammation and other risk factors for spontaneous preterm birth (PTB) and preterm premature rupture of membranes (pPROM) may cause a redox imbalance, increasing the release of free radicals and consuming antioxidant defenses. Oxidative stress, in turn, can initiate intracellular signaling...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1549-4

    authors: Martin LF,Moço NP,de Lima MD,Polettini J,Miot HA,Corrêa CR,Menon R,da Silva MG

    更新日期:2017-11-13 00:00:00

  • The RECIPE study: reducing emergency Caesareans and improving the Primiparous experience: a blinded, prospective, observational study.

    abstract:BACKGROUND:The RECIPE study aims to validate a risk prediction model for intrapartum caesarean delivery which has been developed by our group. The Genesis study was a prospective observational study carried out by the Perinatal Ireland Research Consortium across 7 clinical centres in Ireland between October 2012 and Ju...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03112-6

    authors: Murphy NC,Burke N,Dicker P,Cody F,Kent E,Tully EC,Malone FD,Breathnach FM

    更新日期:2020-07-29 00:00:00

  • Obstetric fistula in Burundi: a comprehensive approach to managing women with this neglected disease.

    abstract:BACKGROUND:In Burundi, the annual incidence of obstetric fistula is estimated to be 0.2-0.5% of all deliveries, with 1000-2000 new cases per year. Despite this relatively high incidence, national capacity for identifying and managing obstetric fistula is very limited. Thus, in July 2010, Medecins Sans Frontieres (MSF) ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-13-164

    authors: Tayler-Smith K,Zachariah R,Manzi M,van den Boogaard W,Vandeborne A,Bishinga A,De Plecker E,Lambert V,Christiaens B,Sinabajije G,Trelles M,Goetghebuer S,Reid T,Harries A

    更新日期:2013-08-21 00:00:00

  • Client-tailored maternity care to increase maternal empowerment: cluster randomized controlled trial protocol; the healthy pregnancy 4 All-2 program.

    abstract:BACKGROUND:The postpartum period is an important period for preventive strategies as common maternal and child health risks may become manifest. Women with a lower socioeconomic status tend to have lower maternal empowerment. Increasing their risks of adverse maternal and child health outcomes. This study aims to asses...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-018-2155-9

    authors: Lagendijk J,Been JV,Ernst-Smelt HE,Bonsel GJ,Bertens LCM,Steegers EAP

    更新日期:2019-01-03 00:00:00

  • Health may be compromised by social interactions depending on culture among postpartum Arab and Jewish Israeli women.

    abstract:BACKGROUND:Social support is generally perceived to facilitate health in postpartum women; however, previous research shows that this is not always true. Social interactions intended to provide support can be perceived as negative and in turn, may have negative impacts on maternal health. The purpose of the present stu...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03168-4

    authors: Puddister S,Ali-Saleh O,Cohen-Dar M,Baron-Epel O

    更新日期:2020-08-21 00:00:00

  • Intraclass correlation coefficients in the Brazilian Network for Surveillance of Severe Maternal Morbidity study.

    abstract:BACKGROUND:The purpose of the study was to evaluate intraclass correlation coefficients (ICC) of variables concerning personal characteristics, structure, outcome and process in the Brazilian Network for Surveillance of Severe Maternal Morbidity study conducted to identify severe maternal morbidity/near miss cases usin...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2393-12-101

    authors: Haddad SM,Sousa MH,Cecatti JG,Parpinelli MA,Costa ML,Souza JP,Brazilian Network for Surveillance of Severe Maternal Morbidity Group.

    更新日期:2012-09-21 00:00:00

  • Fertility preservation with successful pregnancy outcome in a patient with transplanted heart and non-Hodgkin's lymphoma - a case report.

    abstract:BACKGROUND:Fertility preservation must be discussed with reproductive age women before cancer treatment. Heart transplantation raises complex issues in pregnancy. Pregnancy in a heart transplant woman after pelvic irradiation involves close multidisciplinary follow-up to avoid complications in the mother and the foetus...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-019-2587-x

    authors: Pais AS,Guerra N,Couto D,Sousa AP,Almeida-Santos T

    更新日期:2019-11-19 00:00:00

  • 4th stage transvaginal omental herniation during VBAC complicated by shoulder dystocia: a unique presentation of uterine rupture.

    abstract:BACKGROUND:Uterine rupture is a common complication in women attempting their first virginal birth after caesarean section (VBAC) but the risk diminishes with subsequent VBACs. It occurs in rates of 0.5-9% and is influenced by various factors. CASE PRESENTATION:A unique case of uterine rupture in a Kenyan woman of Afr...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-13-76

    authors: Mwenda AS

    更新日期:2013-03-23 00:00:00

  • Assessing the effectiveness of mindfulness-based programs on mental health during pregnancy and early motherhood - a randomized control trial.

    abstract:BACKGROUND:The process of entering motherhood is highly stressful for women, with 15-85% of new mothers experiencing postpartum blues or depression. This study was designed to evaluate the efficacy of a mindfulness-based childbirth and parenting program in improving psychological health during the postpartum period. M...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12884-019-2503-4

    authors: Pan WL,Chang CW,Chen SM,Gau ML

    更新日期:2019-10-10 00:00:00

  • Basic newborn care and neonatal resuscitation: a multi-country analysis of health system bottlenecks and potential solutions.

    abstract:BACKGROUND:An estimated two-thirds of the world's 2.7 million newborn deaths could be prevented with quality care at birth and during the postnatal period. Basic Newborn Care (BNC) is part of the solution and includes hygienic birth and newborn care practices including cord care, thermal care, and early and exclusive b...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-15-S2-S4

    authors: Enweronu-Laryea C,Dickson KE,Moxon SG,Simen-Kapeu A,Nyange C,Niermeyer S,Bégin F,Sobel HL,Lee AC,von Xylander S,Lawn JE

    更新日期:2015-01-01 00:00:00

  • Induction of labour in nulliparous women- quick or slow: a cohort study comparing slow-release vaginal insert with low-dose misoprostol oral tablets.

    abstract:BACKGROUND:This study was undertaken with the objective of comparing efficacy and safety for two different regimens using misoprostol for induction of labour. METHODS:The study was set in two different hospitals in the region of Zeeland, Denmark, and designed as a prospective cohort study. Nulliparous women with unrip...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-2770-0

    authors: Eriksson A,Jeppesen S,Krebs L

    更新日期:2020-02-07 00:00:00

  • Postpartum depressive symptoms and its association to daytime sleepiness and restless legs during pregnancy.

    abstract:BACKGROUND:Postpartum depression is a common condition, which consequences might be harmful for both mother and child. Since sleep and depression are closely related it is possible that women who suffer from sleep related problems during pregnancy are more likely to develop depression in the postpartum period. This stu...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-016-0917-9

    authors: Sarberg M,Bladh M,Svanborg E,Josefsson A

    更新日期:2016-06-06 00:00:00

  • Vaginal delivery is safely achieved in pregnancies complicated by spinal cord injury: a retrospective 25-year observational study of pregnancy outcomes in a national spinal injuries centre.

    abstract:BACKGROUND:Women with spinal cord injuries (SCI) represent a high risk population during pregnancy with comparatively few studies in the literature regarding their management and pregnancy outcomes, due to the relative rarity of the condition. Our objective was to assess pregnancy outcomes in women with spinal cord inj...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-2752-2

    authors: Robertson K,Dawood R,Ashworth F

    更新日期:2020-01-29 00:00:00

  • A survey-based study of Zika virus communication preferences among pregnant women in Georgia, United States.

    abstract:BACKGROUND:Because of the particularly severe perinatal outcomes associated with antenatal Zika virus infection, it is important for prenatal care providers to communicate Zika virus risks and strategies for prevention to their patients. Although face-to-face communication is ideal, clinic visits may not allow for in-d...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1516-0

    authors: Ellingson MK,Bonk CM,Chamberlain AT

    更新日期:2017-09-26 00:00:00

  • Risk of unsafe abortion associated with long-term contraception behaviour: a case control study from Sri Lanka.

    abstract:BACKGROUND:When faced with an unintended pregnancy, some women choose to undergo an unsafe abortion, while others do not. This choice may depend on long-term contraception that shapes the fertility goals of women, along with many other risk factors. We assessed the risk for unsafe abortion associated with contraceptive...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1376-7

    authors: Arambepola C,Rajapaksa LC

    更新日期:2017-06-29 00:00:00

  • Inadequate fetal heart rate monitoring and poor use of partogram associated with intrapartum stillbirth: a case-referent study in Nepal.

    abstract:BACKGROUND:Newborns are at the greatest risk for dying during the intrapartum period, including labor and delivery, and the first day of life. Fetal heart rate monitoring (FHRM) and partogram use to track labor progress are evidence-based techniques that can help to identify maternal and fetal risk factors so that thes...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-016-1034-5

    authors: Kc A,Wrammert J,Clark RB,Ewald U,Målqvist M

    更新日期:2016-08-19 00:00:00

  • Risk factors and comorbidities associated with magnesium deficiency in pregnant women and women with hormone-related conditions: analysis of a large real-world dataset.

    abstract:BACKGROUND:An accumulating body of literature indicates that magnesium deficiency is associated with a number of hormone-related conditions (HRC) in women, and epidemiological studies are needed to assess its prevalence and risk factors. Here, we present a secondary analysis of data pooled from four large observational...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-021-03558-2

    authors: Orlova S,Dikke G,Pickering G,Yaltseva N,Konchits S,Starostin K,Bevz A

    更新日期:2021-01-22 00:00:00

  • Struggling to survive for the sake of the unborn baby: a grounded theory model of exposure to intimate partner violence during pregnancy.

    abstract:BACKGROUND:Intimate partner violence (IPV) during pregnancy is a serious matter which threatens maternal and fetal health. The aim of this study was to develop a grounded theoretical model of women's experience of IPV during pregnancy and how they handle their situation. METHOD:Ten interviews with women who had experi...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-14-293

    authors: Finnbogadóttir H,Dykes AK,Wann-Hansson C

    更新日期:2014-08-28 00:00:00

  • Can a community health worker administered postnatal checklist increase health-seeking behaviors and knowledge?: evidence from a randomized trial with a private maternity facility in Kiambu County, Kenya.

    abstract:BACKGROUND:Since the 2009 WHO and UNICEF recommendation that women receive home-based postnatal care within the first three days after birth, a growing number of low-income countries have explored integrating postnatal home visit interventions into their maternal and newborn health strategies. This randomized trial eva...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12884-016-0914-z

    authors: McConnell M,Ettenger A,Rothschild CW,Muigai F,Cohen J

    更新日期:2016-06-04 00:00:00

  • Factors influencing decision-making for caesarean section in Sweden - a qualitative study.

    abstract:BACKGROUND:Rising rates of caesarean section (CS) are a concern in many countries, yet Sweden has managed to maintain low CS rates. Exploring the multifactorial and complex reasons behind the rising trend in CS has become an important goal for health professionals. The aim of the study was to explore Swedish obstetrici...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-018-2007-7

    authors: Panda S,Daly D,Begley C,Karlström A,Larsson B,Bäck L,Hildingsson I

    更新日期:2018-09-17 00:00:00

  • The association between attendance of midwives and workload of midwives with the mode of birth: secondary analyses in the German healthcare system.

    abstract:BACKGROUND:The continuous rise in caesarean rates across most European countries raises multiple concerns. One factor in this development might be the type of care women receive during childbirth. 'Supportive care during labour' by midwives could be an important factor for reducing fear, tension and pain and decreasing...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2393-14-300

    authors: Knape N,Mayer H,Schnepp W,zu Sayn-Wittgenstein F

    更新日期:2014-09-02 00:00:00

  • Effect of community-based distribution of misoprostol on facility delivery: a scoping review.

    abstract:INTRODUCTION:Community distribution of misoprostol to pregnant women in advance of labor is one of the compelling strategies for preventing postpartum hemorrhage. Concerns have been reported that misoprostol distribution could reduce facility delivery or lead to misuse of the medication. This scoping review was conduct...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,评审

    doi:10.1186/s12884-019-2539-5

    authors: Tiruneh GT,Yakob B,Ayele WM,Yigzaw M,Roro MA,Medhanyi AA,Hailu EG,Bayou YT

    更新日期:2019-11-06 00:00:00