Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods.


BACKGROUND:Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC and the role of AB, minimizing subjectivity. METHODS:Data were obtained from the ECLAMC maternity hospitals network database. A total of 450 live and stillborn infants, born during 1967-2013, with AB or the LBWC were selected. A hierarchical cluster analysis was used to classify cases into homogeneous groups (sharing similar associated defects); robustness of the classification was confirmed with a discriminant analysis. The frequency of associated defects was compared among groups; those whose frequency differed significantly were included in a logistic regression to establish their association within each group. RESULTS:The cluster analysis identified two groups: a body wall defect (BWD) predominating in one, AB in the other. These groups were further divided into: BWD (cases with only BWD), AB (with only AB), BWD + AB, and NONE (with neither). Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB. CONCLUSIONS:The results, obtained with the least possible subjectivity, indicated that BWD and BWD + AB are different conditions. Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered as inclusion criterium and that it should be included in the BWD acronym as LBWC.


Birth Defects Res


Birth defects research


Rittler M,Campaña H,Poletta FA,Santos MR,Gili JA,Pawluk MS,Cosentino VR,Gimenez L,Lopez-Camelo JS




Has Abstract


2019-03-01 00:00:00










  • Gestational and Lactational Exposure to an Environmentally-Relevant Mixture of Brominated Flame Retardants: Effects on Neurodevelopment and Metabolism.

    abstract:BACKGROUND:Developmental exposure to brominated flame retardants (BFRs), including polybrominated diphenyl ethers (PBDEs) and hexabromocyclododecane (HBCDD), has been associated with impaired neurodevelopment and some symptoms of metabolic syndrome. However, there are inconsistencies in studies reporting neurodevelopme...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Tung EWY,Kawata A,Rigden M,Bowers WJ,Caldwell D,Holloway AC,Robaire B,Hales BF,Wade MG

    更新日期:2017-04-17 00:00:00

  • Combined effects of maternal exposure to fungicides on behavioral development in F1 -generation mice: 2. Fixed-dose study of thiabendazole.

    abstract:BACKGROUND:Few published studies are reported for the neurobehavioral toxicity of combined exposure to fungicides in mammals. This study was aimed to re-evaluate the reproductive and neurobehavioral effects of maternal exposure to combined imazalil (IMZ) and thiabendazole (TBZ) with fixed-dose of TBZ in mice. METHODS:...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Tanaka T,Suzuki T,Inomata A,Moriyasu T

    更新日期:2020-12-01 00:00:00

  • Screening, genetics, risk factors, and treatment of neonatal cataracts.

    abstract::Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topi...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Li J,Xia CH,Wang E,Yao K,Gong X

    更新日期:2017-06-01 00:00:00

  • How microplastic components influence the immune system and impact on children health: Focus on cancer.

    abstract:BACKGROUND:As a result of human socioeconomic activity, industrial wastes have increased distressingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. A big health hazard is the sorption of toxicants to plastic while traveling through the environment. Two br...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Segovia-Mendoza M,Nava-Castro KE,Palacios-Arreola MI,Garay-Canales C,Morales-Montor J

    更新日期:2020-10-01 00:00:00

  • Ambient and Dosed Exposure to Quaternary Ammonium Disinfectants Causes Neural Tube Defects in Rodents.

    abstract:BACKGROUND:Quaternary ammonium compounds are a large class of chemicals used for their antimicrobial and antistatic properties. Two common quaternary ammonium compounds, alkyldimethylbenzyl ammonium chloride (ADBAC) and didecyldimethyl ammonium chloride (DDAC), are combined in common cleaners and disinfectants. Introdu...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Hrubec TC,Melin VE,Shea CS,Ferguson EE,Garofola C,Repine CM,Chapman TW,Patel HR,Razvi RM,Sugrue JE,Potineni H,Magnin-Bissel G,Hunt PA

    更新日期:2017-08-15 00:00:00

  • Birth practices: Maternal-neonate separation as a source of toxic stress.

    abstract::Maternal-neonate separation for human newborns has been the standard of care since the last century; low birth weight and preterm infants are still routinely separated from their mothers. With advanced technology, survival is good, but long-term developmental outcomes are very poor for these especially vulnerable newb...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Bergman NJ

    更新日期:2019-09-01 00:00:00

  • Tetanus, diphtheria, and pertussis vaccine (Tdap) in pregnancy and risk of major birth defects in the offspring.

    abstract:BACKGROUND:The tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine is recommended during pregnancy to protect newborns against pertussis infection in the months prior to their primary pertussis vaccination. Although research on the safety of the vaccine has been reassuring, most previous s...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Kerr SM,Van Bennekom CM,Mitchell AA

    更新日期:2020-03-01 00:00:00

  • The effects of NONRATT008453.2 on autophagy in genital tubercle fibroblasts of rats with hypospadias induced by dibutyl phthalate.

    abstract:BACKGROUND:Hypospadias is a common birth defect that might be caused by inadequate fusion of the urethral folds in the process of male external genital development. We intended to discover the crucial long noncoding RNAs (lncRNAs) regulating autophagy from the gene expression profile of the genital tubercle (GT) of dib...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Feng X,Huang E,Gao Y,Zhang Y,Zhou Y

    更新日期:2021-01-15 00:00:00

  • Chronic exposure to high doses of selenium in the first trimester of pregnancy: Case report and brief literature review.

    abstract:BACKGROUND:Obstetricians usually prescribe supplements during pregnancy without actual indication. The use of selenium during pregnancy has increased, due to its function in several antioxidant mechanisms. CASE:A pregnant woman received 200,000 micrograms (μg) per day of a selenium galenic formulation, since gestation...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: D'Oria L,Apicella M,De Luca C,Licameli A,Neri C,Pellegrino M,Simeone D,De Santis M

    更新日期:2018-03-01 00:00:00

  • Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

    abstract:BACKGROUND:It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA pattern...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Agopian AJ,Evans JA,Lupo PJ

    更新日期:2018-01-15 00:00:00

  • Developmental and reproductive safety evaluation of AV7909 anthrax vaccine candidate in rats.

    abstract::The AV7909 vaccine, consists of the Anthrax Vaccine Adsorbed (AVA) bulk drug substance and the immunostimulatory Toll-like receptor 9 agonist oligodeoxynucleotide adjuvant CPG 7909. The purpose of this research was to evaluate the potential maternal, reproductive, and developmental toxicity of AV7909 in rats to suppor...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Mylchreest E,Smiley MA,Ballin JD,Blauth B,Shearer J,Reece J,Ionin B,Savransky V

    更新日期:2021-01-01 00:00:00

  • Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities?

    abstract:BACKGROUND:Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used ...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Nasri HZ,Houde Ng K,Westgate MN,Hunt AT,Holmes LB

    更新日期:2018-01-01 00:00:00

  • Diverse application of MRI for mouse phenotyping.

    abstract::Small animal models, particularly mouse models, of human diseases are becoming an indispensable tool for biomedical research. Studies in animal models have provided important insights into the etiology of diseases and accelerated the development of therapeutic strategies. Detailed phenotypic characterization is essent...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Wu YL,Lo CW

    更新日期:2017-06-01 00:00:00

  • High Ratios of C20:4n-6/C20:5n-3 and Thromboxane B2 /6-Keto-Prostaglandin F1α in Placenta Are Potential Risk Contributors for Neural Tube Defects: A Case-Control Study in Shanxi Province, China.

    abstract:BACKGROUND:Neural tube defects (NTDs) are severe congenital malformations. Folate supplementation can reduce the risk, but cannot prevent all NTDs, suggesting other reasons for folate-resistant NTDs. The present study assesses placental fatty acid composition, eicosanoids, and cytokines as risk factors for NTDs in a Ch...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Li K,Zhang X,Pei L,Chen G,Liu J,Wahlqvist ML,Zheng X,Li D

    更新日期:2017-05-01 00:00:00

  • Maternal Medicaid Recipient Status and Congenital Malformations among New York State Live Births in 2010.

    abstract:BACKGROUND:Congenital malformations are a leading cause of infant mortality in the United States, and risk for some congenital malformations varies by socioeconomic status (SES). Medicaid provides health insurance for people with low income, and covers approximately half of all live births in the United States. Income ...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Richardson SD,Josberger RE

    更新日期:2017-11-01 00:00:00

  • Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

    abstract:BACKGROUND:Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS:...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Dimopoulos A,Sicko RJ,Kay DM,Rigler SL,Druschel CM,Caggana M,Browne ML,Fan R,Romitti PA,Brody LC,Mills JL

    更新日期:2017-01-20 00:00:00

  • Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

    abstract::Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized that similar genetic variants, developmental pathways and biological functions, contribute to disease risk for CTRD in patients without a 22q11.2 deletion (ND-CTRD) and with a 22q11.2 deletion ...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Xie HM,Taylor DM,Zhang Z,McDonald-McGinn DM,Zackai EH,Stambolian D,Hakonarson H,Morrow BE,Emanuel BS,Goldmuntz E

    更新日期:2019-08-01 00:00:00

  • The prevalence of birth defects among non-Hispanic Asian/Pacific Islanders and American Indians/Alaska Natives in Texas, 1999-2015.

    abstract:BACKGROUND:There is considerable variability in the prevalence of birth defects among racial/ethnic groups. This study estimated birth defect prevalence among the less studied non-Hispanic (NH) Asian/Pacific Islander (PI) and American Indian/Alaska Native (AI/AN) populations in Texas relative to NH Whites. METHODS:Dat...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Le MT,Shumate CJ,Hoyt AT,Wilkinson AV,Canfield MA

    更新日期:2019-11-01 00:00:00

  • Hypospadias risk is increased with maternal residential exposure to hormonally active hazardous air pollutants.

    abstract:BACKGROUND:With the increasing birth prevalence of hypospadias, there is growing concern for pollutant exposure interfering with normal penile development. We assess the association between hypospadias and hormonally active hazardous air pollutants (HAHAPs) through a nationwide database of hazardous air pollutants and ...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Sheth KR,Kovar E,White JT,Chambers TM,Peckham-Gregory EC,O'Neill M,Langlois PH,Seth A,Scheurer ME,Lupo PJ,Jorgez CJ

    更新日期:2019-04-15 00:00:00

  • Accuracy of birth certificate head circumference measurements: Massachusetts, 2012-2013.

    abstract:BACKGROUND:Zika virus has recently emerged as a novel cause of microcephaly. CDC has asked states to rapidly ascertain and report cases of Zika-linked birth defects, including microcephaly. Massachusetts added head circumference to its birth certificate (BC) in 2011. The accuracy of head circumference measurements from...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Somerville NJ,Chen X,Heinke D,Stone SL,Higgins C,Manning SE,Pagnano S,Yazdy MM,Anderka M

    更新日期:2018-03-15 00:00:00

  • Teratogen update: Zika virus and pregnancy.

    abstract::Zika virus was first identified in Uganda in 1947 but received little attention until 2015 when a large outbreak of Zika virus illness followed by an increased number of babies born with microcephaly occurred in Brazil. Zika virus spread rapidly throughout the Americas, and in 2016 was identified as a cause of microce...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Rasmussen SA,Jamieson DJ

    更新日期:2020-09-01 00:00:00

  • Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

    abstract:BACKGROUND:Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals o...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Liu H,Busch T,Eliason S,Anand D,Bullard S,Gowans LJJ,Nidey N,Petrin A,Augustine-Akpan EA,Saadi I,Dunnwald M,Lachke SA,Zhu Y,Adeyemo A,Amendt B,Roscioli T,Cornell R,Murray J,Butali A

    更新日期:2017-01-20 00:00:00

  • Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.

    abstract::The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studi...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Radford K,Taylor RC,Hall JG,Gick B

    更新日期:2019-01-15 00:00:00

  • Animal Embryotoxicity Studies of Key Non-Artemisinin Antimalarials and Use in Women in the First Trimester.

    abstract::The World Health Organization currently recommends quinine+clindamycin for use against malaria in the first trimester. This may soon change to recommending artemisinin-based combination therapies (standard duration of dosing = 3 days). The non-artemisinin partner drugs include amodiaquine, lumefantrine, mefloquine, pi...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Clark RL

    更新日期:2017-08-15 00:00:00

  • Memories of the Teratology Society: 1972-2020.

    abstract:BACKGROUND:My career goal in 1971 was to learn about the causes of malformations. Attending the annual meetings of the Teratology Society and reading the articles in Teratology exposed me to the scientists and clinicians involved in this research and the methods being used. METHODS:Over a period of 49 years (1972-2020...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Holmes LB

    更新日期:2020-07-15 00:00:00

  • Dose range finding approach for rodent preweaning juvenile animal studies.

    abstract:OBJECTIVES:Strategies for conducting juvenile dose ranging studies before definitive toxicity juvenile animal studies (JAS) have evolved, but the aim of demonstrating study design robustness and efficient animal use remains the same. The objective of dose selection is to identify a strategy to achieve consistent system...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Posobiec LM,Laffan SB

    更新日期:2020-12-14 00:00:00

  • Electronic nicotine delivery systems and pregnancy: Recent research on perceptions, cessation, and toxicant delivery.

    abstract::Electronic nicotine delivery systems (ENDS), which includes e-cigarettes (ECIGs), are a rapidly-expanding class of products that heat a liquid (which may or may not contain nicotine) to produce an aerosol. The variation of ECIG components is extensive as are their effects on users. Epidemiological data show that while...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Breland A,McCubbin A,Ashford K

    更新日期:2019-10-15 00:00:00

  • OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

    abstract::OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific asso...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Arteaga-Vázquez J,Luna-Muñoz L,Morales-Suárez JJ,Mutchinick OM

    更新日期:2019-07-01 00:00:00

  • Temporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000-2015.

    abstract:OBJECTIVE:Assess temporal trends in congenital microcephaly. METHODS:We used Texas inpatient discharge diagnoses between 2000 and 2015, restricting to newborns. Between 2000 and 2003, the maximum number of fields for recording diagnostic codes was eight, and between 2004 and 2015 it was 24. Microcephaly was classified...

    journal_title:Birth defects research

    pub_type: 杂志文章


    authors: Waller DK,Tark JY,Agopian AJ,Shewale J,Ganduglia-Cazaban C,Hoyt AT,Scheuerle AE,Langlois PH

    更新日期:2019-06-01 00:00:00

  • Phenotyping cardiac and structural birth defects in fetal and newborn mice.

    abstract::Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardia...

    journal_title:Birth defects research

    pub_type: 杂志文章,评审


    authors: Liu X,Kim AJ,Reynolds W,Wu Y,Lo CW

    更新日期:2017-06-01 00:00:00