+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Costello syndrome



Costello syndrome



American Journal of Medical Genetics 41(1): 69-73



In 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. We present a third patient and review the manifestations of this condition.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 007165622

Download citation: RISBibTeXText

PMID: 1951465

DOI: 10.1002/ajmg.1320410118


Related references

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. American Journal of Medical Genetics. Part A 170(3): 559-564, 2015

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. American Journal of Medical Genetics. Part A 146a(9): 1205-1217, 2008

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?. Clinical Dysmorphology 7(2): 149-151, 1998

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. American Journal of Medical Genetics. Part A 140(15): 1681-1683, 2006

Exclusion of PTPN11 mutations in Costello syndrome: Further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clinical Genetics 63(5): 423-426, 2003

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. American Journal of Medical Genetics. Part A 164a(11): 2814-2821, 2016

Costello syndrome: the natural history of a true postnatal growth retardation syndrome. Genetic Counseling 6(2): 121-125, 1995

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. American Journal of Medical Genetics. Part A 121a(1): 82-84, 2003

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. American Journal of Medical Genetics. Part A 158a(6): 1486-1488, 2012

Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. Genetic Counseling 5(4): 337-343, 1994

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography. Prenatal Diagnosis 26(4): 340-344, 2006

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. American Journal of Medical Genetics. Part A 155a(3): 486-507, 2011

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. American Journal of Medical Genetics. Part A 167a(1): 40-44, 2015

Costello syndrome and facio-cutaneous-skeletal syndrome. American Journal of Medical Genetics 47(2): 174-175, 1993