Results 111 to 120 of about 7,783 (160)

Costello syndrome

American Journal of Medical Genetics Part A, 1991
AbstractIn 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation.
V M, Der Kaloustian, B, Moroz, N, McIntosh, A K, Watters, S, Blaichman   +4 more
exaly   +3 more sources

Costello syndrome: An overview

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2003
AbstractThe Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomata, especially around the mouth, and have a predisposition for malignancies ...
exaly   +3 more sources

Cardiac Disease in Costello Syndrome

Pediatrics, 1998
* Abbreviations: ECHO = : echocardiography • VSD = : ventricular septal defect • ECG = : electrocardiogram • HCM = : hypertrophic cardiomyopathy • PDA = : patent ductus arteriosus In 1977, Costello1described 2 patients with a new multiple congenital anomalies/mental retardation syndrome.
Wiesner Georgia L
exaly   +3 more sources

The adult phenotype in Costello syndrome

American Journal of Medical Genetics, Part A, 2005
AbstractWe report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a
Susan White, Matthew Edwards
exaly   +4 more sources

Costello syndrome: Report and review

American Journal of Medical Genetics Part A, 1999
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed.
Agnies Van Eeghen, R C Hennekam
exaly   +3 more sources

The Costello syndrome

American Journal of Medical Genetics, 1993
AbstractIn 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977).
B, Say, M, Güçsavaş, H, Morgan, C, York   +3 more
openaire   +2 more sources

Costello syndrome

Journal of the American Academy of Dermatology, 1995
Costello syndrome is an uncommon multisystemic condition with highly characteristic cutaneous manifestations. We describe here the case of a patient with Costello syndrome, and review previous reports of this entity.
A, Torrelo, A, López-Avila, I G, Mediero, A, Zambrano   +3 more
openaire   +2 more sources

Keratoconus in Costello Syndrome

American Journal of Medical Genetics Part A, 2013
AbstractKeratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with ...
Karen W, Gripp, Laurie A, Demmer
openaire   +2 more sources

Delineation of the costello syndrome

American Journal of Medical Genetics, 1991
AbstractWe present a 15‐year‐old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et ...
R A, Martin, K L, Jones
openaire   +2 more sources