Results 51 to 60 of about 5,468 (219)

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Double dermal sinuses: a case study [PDF]

, 2008
Introduction Dermal sinus tracts are rare congenital lesions located in the midline characterized by a cutaneous pit or dimple. They occur all along the midline neuroaxis, from the nasion and occipital area down to the lumbar and sacral regions, most ...
Mostafa El Khashab, Farideh Nejat, Abolhasan Ertiaei, LL Ackerman, S Ansari, MS Dias, JT Goodrich, HE James, A Jindal, JG McComb, F Nejat, RF Keating   +11 more
core   +1 more source

Recognizable neonatal clinical features of aplasia cutis congenita [PDF]

, 2020
Background: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could ...
Antona V., Corsello G., Del Vecchio A., Giuffre M., Piro E., Schierz I. A. M.   +5 more
core   +1 more source

Mediating Effects of Family and Clinical Characteristics on the Quality of Life of Children With Spina Bifida and Their Parents

Journal of Advanced Nursing, Volume 82, Issue 3, Page 2165-2176, March 2026.
ABSTRACT Aims (1) To determine the mediating effects of children's transition readiness, which reflects self‐management skill acquisition, and family resilience on the relationship between parenting stress and the quality of life (QOL) of parents and children with spina bifida (SB).
Seung Hyeon Yang, Hyeseon Yun, Hooyun Lee, Kyua Kim, Chang Gi Park, Eun Kyoung Choi   +5 more
wiley   +1 more source

Neonatal Arnold–Chiari II Malformation: An Imaging‐Focused Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Arnold‐Chiari Malformation Type II (CM‐II) is a serious congenital hindbrain disorder marked by the displacement of the cerebellum and brainstem downwards through the foramen magnum. CM‐II is frequently linked with myelomeningocele and hydrocephalus.
Mohammad Alashqar, Seba Lubbadeh, Ahmad Daraghmeh, Ahmad Alashqar, Zaina Khaled, Suleiman Sbeih, Amjad Bdair, Israa Salman, Mohammed I. Abu Kamesh   +8 more
wiley   +1 more source

Diagnostic Accuracy of Ultrasonography in Detecting Spinal Dysraphism in Infants, Taking MRI as the Gold Standard

Journal of Aziz Fatimah Medical and Dental College
Objective: To determine the diagnostic accuracy of ultrasonography in detecting spinal dysraphism in infants, taking MRI as the gold standard. Methodology: This cross-sectional study was conducted over a period of six months, from 30th May 2023 to ...
Nosheen Ahmad, Amna Rehan, Abdul Rauf, Mahreen Rasool, Hassan Bukhari, Fiza Kamran   +5 more
doaj   +1 more source

Late diagnosis of dorsolumbar lipomyelomeningocele with tethered cord in a middle aged adult: A case report from Nepal

Radiology Case Reports, 2022
Closed spinal dysraphism can present with diagnostic issues in settings with limited resources, when knowledge of the disorder and specialized radiological studies, such as magnetic resonance imaging (MRI), may not be readily available. Undiagnosed cases
Sajiva Aryal, MBBS, Saroj Poudel, MBBS, Suraj Sharma, MBBS, MD, Sulav Deo, MBBS   +3 more
doaj   +1 more source

Congenital anomalies of the vertebrae in dogs [PDF]

, 2017
In this review article, a overview is given of the congenital pathologies of vertebrae in the dog. These pathologies are common in dogs and can be divided in two major groups: neural tube defects or spinal dysraphism, such as spina bifida with or without
De Rycke, Lieve, Saunders, Jimmy
core   +1 more source

Rare Case of Anterior Sacral Meningocele in a 30‐Year‐Old Male: Surgical Excision Using the Posterior Sagittal Approach

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Anterior sacral meningocele (ASM) is an uncommon congenital spinal abnormality in which the meningeal sac herniates through an abnormality in the anterior sacrum into the presacral space. It is more observed in females and usually asymptomatic; large ASMs may cause pressure effects on nearby pelvic structures. A 30‐year‐old male presented with
Ayesha Farooq, Zaryab Bacha, Umaima Cheema, Maryum Farooq, Abdullah Afridi, Fathimathul Henna, Muhammad Abdullah Ali, Kamil Ahmad Kamil   +7 more
wiley   +1 more source