Results 151 to 160 of about 869,874 (249)

Socialization Program for Prevention and Early Detection of Congenital Hearing Loss in the Families of Deaf School children

, 2021
Gwenny Ichsan Prabowo, Citrawati Dyah Kencono Wungu, Retno Handajani, Nyilo Purnami, Fis Citra Ariyanto   +4 more
openalex   +2 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

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, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Congenital Hypothyroidism

, 2013
F Péter, Ágota Muzsnai, Rózsa Gráf
openalex   +2 more sources

OC31.01: Measurement of pulmonary vascular volume using virtual reality three‐dimensional ultrasound in fetuses with left‐sided congenital diaphragmatic hernia [PDF]

, 2019
N. Peters, Titia E. Cohen‐Overbeek, Alex Eggink, A. H. Koning, EAP Steegers   +4 more
openalex   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

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, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Adult Presentation of Congenital Mitral Stenosis: The Challenges of a True Parachute Mitral Valve. [PDF]

Thorac Cardiovasc Surg Rep
Lizano MJ, Herrera Á, Induni E, Solís FE, Caldonazo T.   +4 more
europepmc   +1 more source

Accessory cardiac bronchus: A rare congenital anomaly of the tracheobronchial tree

, 2006
AL Atre, Avinash Joshi, John Joseph, A Tandon, P. D. Sangle   +4 more
openalex   +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, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Congenital Distal Tibiofibular Synostosis: A Case Report of Surgical Management in a Skeletally Immature Patient. [PDF]

Case Rep Orthop
Kawanishi S, Tomaru Y, Saisu T, Tsuruoka H, Kitamura N, Kamegaya M.   +5 more
europepmc   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source