Costello syndrome

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


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PMID (PMCID)
27366541
 OTHER
Anaesthetic Management in Costello Syndrome.
Akcl EF, Dilmen OK, Tunal Y.
Turk J Anaesthesiol Reanim. 2015;43(6):427-30.
General anaesthesia practice in patients with Costello syndrome may be complicated by difficult airway because of macrocephaly, short neck, macroglossia and oral or laryngeal papillomas.
27366541
 OTHER
Anaesthetic Management in Costello Syndrome.
Akcl EF, Dilmen OK, Tunal Y.
Turk J Anaesthesiol Reanim. 2015;43(6):427-30.
Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia.
25620341
 FEMALE Infant
[Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report].
Guvenc O, engul FS, Sayg M, Ergul Y, Guzeltas A.
Turk Kardiyol Dern Ars. 2014;42(8):767-70.
Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.
22488832
(4164267)
 OTHER
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K.
Am J Med Genet A. 2012;158A(5):1095-101.
Costello syndrome was delineated based on its distinctive phenotype including severe failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment.
19288554
 FEMALE Infant, Newborn
Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.
Smith LP, Podraza J, Proud VK.
Am J Med Genet A. 2009;149A(4):779-84.
Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.
19382114
(4293073)
 MIXED_SAMPLE Infant, Newborn
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
Lin AE, O'Brien B, Demmer LA, Almeda KK, Blanco CL, Glasow PF, Berul CI, Hamilton R, Micheil Innes A, Lauzon JL, Sol-Church K, Gripp KW.
Prenat Diagn. 2009;29(7):682-90.
Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia.
9934987
 FEMALE Adult
Costello syndrome: report and review.
van Eeghen AM, van Gelderen I, Hennekam RC.
Am J Med Genet. 1999;82(2):187-93.
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.