Results 191 to 200 of about 81,200 (264)

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

Primary pulmonary hypoplasia masquerading as pneumonia in a preterm neonate and creating a diagnostic challenge: a case report. [PDF]

J Med Case Rep
Mishra N, Sukumar S, Singh K, Shukla A.
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Newborn Penile Trauma in Delayed Breech Presentation: A Case Study. [PDF]

Cureus
Acevedo Iglesias L, Luong MT, Cufino N, Wu P, Montanez PE, Danahy P.   +5 more
europepmc   +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, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Congenital Volkmann ischemic contracture in an African neonate: a case report. [PDF]

Int J Surg Case Rep
Zeng FTA, Lukusha YII, Kyandabike RK, Sul ASI, Nday GI, Mbuyi-Musanzayi S.   +5 more
europepmc   +1 more source

Combined ultrasound and scintigraphic assessment of coexisting pelvic and cross-fused renal anomalies in a neonate: A case report. [PDF]

Radiol Case Rep
Almushayt SJ, Alshammari BS.
europepmc   +1 more source

Molecular Relatedness of Maternal and Neonatal Multidrug-Resistant Gram-Negative Colonization Isolates in Low- and Middle-Income Countries: A Systematic Review. [PDF]

Open Forum Infect Dis
Dame JA, Obeng-Koranteng G, L'Etoile N, Amoah E, Coffin SE, Ratner AJ, Strysko J, Zheng J, Steenhoff AP, St Cyr G.   +9 more
europepmc   +1 more source

Listeria monocytogenes of two sequence types in a maternal-fetal listeriosis: clinical management and bacterial genomics. [PDF]

BMC Infect Dis
Liu Z, Wang Y, Wang C, Liu L, Li X, Li G, Wei H, Li Z, Zhao J, Zhang J.   +9 more
europepmc   +1 more source

De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report. [PDF]

Ann Noninvasive Electrocardiol
Huang J, Zhang Z, Yang J.
europepmc   +1 more source