Results 81 to 90 of about 60,147,798 (196)

The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature

Clinical Case Reports
Key Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS.
Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington   +6 more
doaj   +1 more source

A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange Syndrome phenotype

, 2005
A de novo T (X;8)(p11.2; q24.3) demonstrating Cornelia De Lange Syndrome phenotype: Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology.
Özkınay F., Cogulu O., Egemen A., Gulen F., Ulger Z.   +4 more
core  

Anaesthetic management of a patient with Cornelia de Lange syndrome

, 2000
Patients with Cornelia de Lange syndrome may encounter potential anaesthetic problems like seizures, cardiac abnormalities, and difficult tracheal intubation.
Özköse, ZERRİN, Bozkirli, F., Öztürk, E.   +2 more
core   +1 more source

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clinical Case Reports, 2017
Key Clinical Message Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations.
Elena Infante, Gorka Alkorta‐Aranburu, Areeg El‐Gharbawy   +2 more
doaj   +1 more source

A flexible loop in the Smc3 head domain is required for stability and cohesin complex integrity

Scientific Reports
Smc3 is a core subunit of the cohesin complex and is essential for its biological function. Cohesin, an evolutionarily conserved complex of the Structural Maintenance of Chromosomes (SMC) family, mediates the higher-order organization of chromatin and ...
Wisal Asaad, Avi Matityahu, Itay Onn
doaj   +1 more source

Cornelia de Lange Syndrome [PDF]

, 2020
Anne L. Calof, Rosaysela Santos, Laura Groves, Christopher Oliver, Arthur D. Lander   +4 more
  +5 more sources

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

, 2009
We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the ...
Wilmink, FA, Wessels, Marja, Grijseels, Els, Papatsonis, Dimitri, M.W. Wessels, F.A. Wilmink, E.W.M. Grijseels, D.N.M. Papatsonis   +7 more
core   +1 more source

BILATERAL SPLIT FEET: A NEW FINDING IN CORNELIA DE LANGE SYNDROME

, 2010
Bilateral split feet: a new finding in Cornelia de Lange Syndrome: We report on a male infant with Cornelia de Lange syndrome and bilateral split feet. Bilateral split feet do not appear to have ever been a reported feature in any of the published cases ...
Dogan, M., Dogan, D. G., Aslan, M., Karabiber, H.   +3 more
core  

A case of Cornelia de Lange syndrome with retentio testis [PDF]

, 1985
A 6-year-old boy whose chief complaint was retentio testis was referred to our clinic. He had mental retardation, shortness of stature of prenatal onset, retarded growth, microbrachycephaly, bushy eyebrows, long eyelashes, low-set ears and micromelia ...
里見, 定信, 寺田, 為義, 片山, 喬   +2 more
core