Results 31 to 40 of about 848 (140)

Dystocia due to fetal monstrosity in a riverine buffalo - A case report [PDF]

, 2021
A case of dystocia in a riverine buffalo due to posterior presentation of the fetal monster having micromelia, brachygnathism, rudimentary eye ball, narrow mouth opening, and edema of neck, face and head is reported and discussed ...
Venkateshappa, Arjun, Yadav, Vinay, Dutt, Ravi, Kumar, Gaurav, Dalal, Jasmer   +4 more
core  

The Congenital Malformations in White Pregnant Mice Fetus Induced by Metformin Drug During 6-18 Days of Gestation

Ibn Al-Haitham Journal for Pure and Applied Sciences, 2018
     The metformin drug  is anti-hyperglycemia  and known to cross the placenta  which leads to the fetus during pregnancy .The aim of this study is to  define the drug  effects in the fetus growth . The doses  used , therapeutic dose ( 0.18 & 0.53 ) mg\
Faeza Nasir Toama, Aziz Khalid Hamid, Aziz Khalid Hamid, Asmat Jamal Jameel   +3 more
doaj   +1 more source

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography [PDF]

Ultrasonography, 2016
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-
Ashwitha Guguloth, Yashant Aswani, Karan Manoj Anandpara   +2 more
doaj   +1 more source

Sodium arsenate induced genotoxicity, morphometric and morphological changes in mice embryo and protective role of

Pakistan Journal of Pharmaceutical Sciences, 2021
The present study was carried out to find the comparative ameliorative role of Moringa oleifera leaf and flower extracts against sodium arsenate induced genotoxic, morphometric and morphological changes in mice embryo.
Moringa oleifera extracts Kashif Ali, Asia Iqbal, Maham Saleem, Ayesha Riaz, Sumaira Abbas, Madeeha Arshad, Javed Iqbal, Muhammad Farhan Nasir, Syed Mohsin Bukhari, Athar Mahmud, Fareeha Amin Ghulam Dastgir, Fatima Sughra   +11 more
doaj   +1 more source

Primer caso de displasia tanatofórica tipo 1 en la región central del Perú con variante patogénica en el gen FGFR3 [PDF]

, 2023
Introduction: Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, it is characterized by disproportions of the axial-appendicular skeleton in addition to short stature, macrocephaly, frontal prominence, narrow thorax, femoral bowing ...
Ledesma-Porras, Yesenia, Torres-Salinas, Carlos, Ledesma-Porras , Yesenia   +2 more
core   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Antenatal diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound

, 2015
BACKGROUND: Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000-130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder.
Mistry, Kewal A., Suthar, Pokhraj P., Patel, Ankitkumar, Bhesania, Siddharth R.   +3 more
core   +1 more source

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome [PDF]

, 2017
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact.
Hill, RS, Elhosary, PC, Chibbar, R, Diaz, DG, Santos, C, Gerrelli, D, Wiebe, S, Barkovich, AJ, Evrony, GD, Ryu, SC, Richardson, JM, Irvine, J, Lam, A-TN, Wiemann, S, Martel, MJ, Coulter, ME, Cordero, DR, Yu, TW, Spooner, B, Partlow, JN, Diudea, D, Galli, A, Robinson, CA, Mochida, GH, Shen, J, Walsh, CA, Morrison, V, Tierney, D, Jayaraman, D, Lemire, EG, Folkerth, R, Tschulena, U, Blakley, P, Rodin, RE   +33 more
core   +1 more source

Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

Case Reports in Obstetrics and Gynecology, 2021
Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3
Bashiru Babatunde Jimah, Teresa Aba Mensah, Kofi Ulzen-Appiah, Benjamin Dabo Sarkodie, Dorothea Akosua Anim, Emmanuella Amoako, Evelyn Antwiwaa Gyamfi   +6 more
doaj   +1 more source