Results 101 to 110 of about 66,521 (260)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 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

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

International Journal of Gynecology &Obstetrics, EarlyView.
Mariana Correia Moreira Cruz, Sophia Helena Batalha, Vitor Matheus Silva, Marcos de Lorenzo Messina, José Maria Soares Junior, Edmund Chada Baracat   +5 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

The association between Ponticulus Posticus and Dental Agenesis: a retrospective study [PDF]

, 2018
OBJECTIVE: Neural tube defects may increase the risk of an abnormal development of skull, vertebral column and teeth formation, including dental agenesis in non syndromic patients. The association between the presence of a congenital Dental Agenesis (DA)
Barbato, Ersilia, Galluccio, Gabriella, Leonardi, Rosa Maria, Putrino, Alessandra   +3 more
core   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]

, 2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien, Coppieters, Frauke, De Baere, Elfride, De Baets, Frans, De Bruyne, Marieke, De Schryver, Sarah, De Wilde, Hans, Dullaers, Melissa, Haerynck, Filomeen, Kuehn, Hye Sun, Lambrecht, Bart, Leroy, Bart, Niemela, Julie E, Rosenzweig, Sergio D   +13 more
core   +2 more sources

Prenatal Magnetic Resonance Imaging Assessment of Fetal Airway Dimensions: Establishing an Anthropometric Database

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetal airway anomalies can severely impair breathing at birth, potentially causing brain injury or death. Thus, early prenatal diagnosis is essential. While MRI is the most effective imaging modality for evaluating fetal airways, normative MRI data remain scarce.
Juliette Houssin, Ahmed El Ahmadi, Robinson Gravier‐Dumonceau, Richard Nicollas, Eric Moreddu   +4 more
wiley   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
E. Hadi, A. Sorotzkin, L. Haddad, E. Kassif, C. Hoffmann, S. Shrot, S. Shoob, A. Shariv, Y. Mizrachi, M. Levy, Z. Leibovitz, T. Lerman‐Sagie, L. Gindes   +12 more
wiley   +1 more source