Results 61 to 70 of about 103,828 (259)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
Congenital dislocation of radial head (A case report)
مجله دانشگاه علوم پزشکی گرگان, 2007 Congenital dislocation of radial head without any abnormality is rare,and commonly reveals with anomalies in another organs.it can be appearance in one side or two side be cause of late manifestations,diagnosis of congenital dislocation of radial head is
Satleghi HM, Ahang U
doaj
Anaesthesia management of esophageal atresia repair surgery
Bali Journal of Anesthesiology, 2018 Esophageal atresia (EA) is a congenital anomaly commonly found with tracheoesophageal fistula (TEF) of neonates in the first week of life. This anomaly can cause several complications including aspiration, reduction in respiration, and complication from ...
Kadek Agus Heryana Putra +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma +12 more
wiley +1 more source
Congenital prepubic sinus: A case report of local experience within a sub-Saharan setting
Journal of Clinical SciencesCongenital prepubic sinus is a rare congenital anomaly of the external genital organs, characterized by an opening on the dorsum with discharge of purulent material in most cases. The condition is not peculiar to males.
Olumide A. Elebute +6 more
doaj +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source