Results 91 to 100 of about 117,358 (311)

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Cardiovascular: Congenital Anomaly

, 1900
Congenital anomaly (incompletely separated cusps) of AV, with calcification (at site of anomaly): Example of dystrophic ...
MUSC Department of Pathology and Laboratory Medicine
core  

DOUBLE RIGHT ATRIUM OR CORTRIATRIUM DEXTRUM A RARE ENTITY:A CASE REPORT

Journal of University Medical & Dental College, 2016
: Cortriatrium dextrum is an extremely rare congenital anomaly .Mostly the anomaly is diagnosed on autopsy as an isolated finding or associated with some other congenital disorder. We report a case of young female presented with palpitation and a systolic
Muhammad Furrakh Maqbool , Khalil Iqbal et al.   +1 more
doaj  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

An alternative treatment for type B Ulnar Polydactyly

, 2009
Includes summary.Includes bibliographical references (leaves 47-50).Rudimentary ulnar polydactyly is one of the most common congenital hand anomalies. These are conventionally treated by suture ligation in the neonatal period or by formal excision, when ...
Maree, Michelle Nerine
core  

Author Correction: The first 3D analysis of the sphenoid morphogenesis during the human embryonic period

Scientific Reports, 2023
Natsuko Utsunomiya, Motoki Katsube, Yutaka Yamaguchi, Akio Yoneyama, Naoki Morimoto, Shigehito Yamada   +5 more
doaj   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Left atrial band: A rare congenital anomaly

, 2014
Left atrial fibromuscular band is a rare congenital cardiac anomaly. We present a patient with an incidental finding of left atrial band on an intra-operative transesophageal echocardiogram and characterize its appearance on two-dimensional and three ...
Kevin Liou, Gita Mathur, Manuja Premaratne   +2 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source