Results 101 to 110 of about 76,951 (280)

Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This mixed method study evaluated the psychological impact and perspectives associated with early and late termination of pregnancy (TOP). Early TOP due to fetal anomalies is associated with a lower psychological impact compared to late TOP. Pregnancy termination has a substantial emotional impact regardless of gestational age.
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +1 more source

Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report [PDF]

, 2022
Carmela Settimo, Lilla Bonanno, Maria Tresoldi, Rosalia Muratore, Francesca Cucinotta, Emanuela Tripodi, Adriana Piccolo, Smeralda Anchesi, Caterina Impallomeni   +8 more
openalex   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Ultrasonographic study of the incidence of pyramidal lobe and agenesis of the thyroid isthmus in Nnewi population

Journal of Ultrasonography, 2018
Introduction: Ultrasound is the most reliable imaging modality for thyroid evaluation due to the limitations in the clinical examination of this gland. Thyroid gland developmental anomalies are rare.
Lotanna Somtoo Akudu, Ukoha Ukoha Ukoha, Jervas Ekezie, Chinwe Clarice Ukoha   +3 more
doaj   +1 more source

Familial cases of missing mandibular incisor: three case presentations [PDF]

, 1999
Hypodontia is the congenital absence of one or more teeth because of agenesis. The most commonly missing teeth are the third molars, the maxillary lateral incisors and the second premolars.
Ngeow, Dr. W.C.
core  

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers [PDF]

, 1992
Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as
Aizawa, Baird, Benecke, Britton, Capaday, Claus, Cohen, Conrad, Danek, Farmer, Forget, Freiman, Fries, Galaburda, Kallmann, Klingm�ller, Konagaya, Lander, Lieblich, Matthews, Meitinger, Nass, Nathan, Regli, Salmaso, Schott, Schwankhaus, Schwanzel-Fukuda, Schwanzel-Fukuda, Shibasaki, Skene, Weidenreich, White, Witt   +33 more
core   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Congenital facial nerve aplasia: MR depiction of a rare anomaly

Indian Journal of Radiology and Imaging, 2016
We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve.
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal   +3 more
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources