Results 131 to 140 of about 7,783 (160)

A Japanese patient with the Costello syndrome

Human Genetics, 1994
The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux.
N, Okamoto, H, Chiyo, K, Imai, K, Otani, Y, Futagi   +4 more
openaire   +2 more sources

HRAS and Costello Syndrome

2008
Abstract Costello syndrome (MIM 218040) is a multiple congenital anomaly/ mental retardation syndrome originally reported by J.M. Costello in 1971 (Costello, 1971). Patients with Costello syndrome show a coarse face, loose skin, hypermobility of the small joints, heart defects including cardiomyopathy, and predisposition to tumors.
Yoko Aoki, Yoichi Matsubara
openaire   +1 more source

Obstructive sleep apnea in Costello syndrome

American Journal of Medical Genetics Part A, 2006
AbstractCostello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto‐oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3–29 years, affected by CS.
Giacomo, Della Marca, Isabella, Vasta, Emanuele, Scarano, Mario, Rigante, Emma, De Feo, Paolo, Mariotti, Marco, Rubino, Catello, Vollono, Gioacchino Francesco, Mennuni, Pietro, Tonali, Giuseppe, Zampino   +10 more
openaire   +2 more sources

Costello Syndrome

Pediatric Dermatology, 2003
Susan B. Mallory, Bernice R. Krafchik, Maria Rita Nasca, Letizia Strano, Maria Letizia Musumeci, Giuseppe Micali   +5 more
openaire   +3 more sources

Costello syndrome

Kirkwood A, Prottengeier J: Costello syndrome, 2021
Kirkwood, Alana, Prottengeier, Johannes
openaire   +1 more source

HRAS and the Costello syndrome

Clinical Genetics, 2007
Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant.
openaire   +2 more sources

Costello-Syndrom

Der Hautarzt, 2015
M. Wirtz, J. Frank
openaire   +1 more source

Craniosynostosis is a feature of Costello syndrome

American Journal of Medical Genetics, Part A, 2022
Karen Gripp, Zarate Ya, Jesse Skoch
exaly  

Hand it to the skin in Costello syndrome

The Journal of Pediatrics, 2004
Angela, Lin, Cary, Harding, Michael, Silberbach   +2 more
openaire   +2 more sources

Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

American Journal of Medical Genetics, Part A, 2012
Tsutomu Ogata, Yu Abe, Tetsuya Niihori   +2 more
exaly