Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause

We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis a...

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Bibliographic Details
Published in:The Journal of pediatrics 1998-09, Vol.133 (3), p.441-448
Main Authors: Johnson, John P., Golabi, Mahin, Norton, Mary E., Rosenblatt, Robert M., Feldman, Gary M., Yang, Samuel P., Hall, Bryan D., Fries, Melissa H., Carey, John C.
Format: Article
Language:English
Subjects:
Acanthosis Nigricans - pathology
Acanthosis Nigricans - physiopathology
Adolescent
Adult
Age Factors
Biological and medical sciences
Carbohydrate Metabolism, Inborn Errors - pathology
Carbohydrate Metabolism, Inborn Errors - physiopathology
Cardiomyopathy, Hypertrophic - pathology
Cardiomyopathy, Hypertrophic - physiopathology
Child
Child, Preschool
Diagnosis, Differential
Dwarfism - diagnosis
Dwarfism - etiology
Dwarfism - genetics
Dwarfism - pathology
Dwarfism - physiopathology
Facies
Female
Genes, Dominant - genetics
Germ-Line Mutation - genetics
Glucose - metabolism
Humans
Intellectual Disability - diagnosis
Intellectual Disability - etiology
Intellectual Disability - genetics
Intellectual Disability - pathology
Intellectual Disability - physiopathology
Male
Medical genetics
Medical sciences
Mental and behavioral disorders
Metabolic Diseases - pathology
Metabolic Diseases - physiopathology
Mosaicism - genetics
Nose Neoplasms - diagnosis
Nose Neoplasms - etiology
Nose Neoplasms - genetics
Nose Neoplasms - pathology
Nose Neoplasms - physiopathology
Papilloma - diagnosis
Papilloma - etiology
Papilloma - genetics
Papilloma - pathology
Papilloma - physiopathology
Parents
Phenotype
Syndrome
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Description
Summary:We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology. (J Pediatr 1998;133:441-8)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(98)70284-7