Results 111 to 120 of about 869,874 (249)

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

A Case of Congenital Neurofibroma of the Nose

, 2023
В.Л. Чекан, Э.А. Шулепова, Е.С. Тишкевич, А.А. Ниделько, И.В. Сахаров   +4 more
openalex   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Rehabilitation of Children Affected by Congenital Posteromedial Bowing of the Tibia: A Case Report

, 2022
Paola Emilia Ferrara, Dario Mattia Gatto, Ilaria Bastoni, Paolo Zordan, Gioia Stefinlongo, Roberta Marini, Fiorella Evangelista, Antonio Leone, Gianpaolo Ronconi   +8 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene [PDF]

Pierre‐Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M. McCormick, Håkon Håkonarson, Sandra Mercier, Marni J. Falk   +12 more
openalex   +1 more source

P649 Uncommon complication after congenital diaphragmatic hernia repair in a newborn [PDF]

, 2019
Manel Charfi, Amel Ben Hamad, Hayet Zitouni, Chiraz Regaieg, Amira Bouraoui, Ridha Regaieg, Nedia Hmida, Riadh Mhiri, Afef Ben Thabet, Abdellatif Gargouri   +9 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

A rare case report: Tetralogy of Fallot, right aortic arch, isolated left subclavian from patent ductus arteriosus, neonatal aortopulmonary window, and hypoplastic right pulmonary arteryCentral Message

JTCVS Techniques, 2022
Nicholas Oh, MD, Tara Karamlou, MD, MSc, Robert Stewart, MD, Munir Ahmad, MD, John Lane, MD, C.R. Patel, MD, Hani K. Najm, MD, MSc   +6 more
doaj   +1 more source

Birth Defects in Northern Iran (2008-2013)

Iranian Journal of Public Health, 2018
Background: Congenital anomalies are important medical and public health conditions. The pattern and prevalence of birth defects may vary over time or with geographical location.
Arezoo MIRFAZELI, Nafiseh KAVIANY, Kanizreza HOSSEINPOOR, Mohammad ARYAIE, Mohammad Jafar GOLALIPOUR   +4 more
doaj