Results 121 to 130 of about 7,783 (160)

Craniosynostosis is a feature of Costello syndrome

American Journal of Medical Genetics Part A, 2021
AbstractCostello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with ...
K. Nicole Weaver, Marguerite Care, Emily Wakefield, Yuri A. Zarate, Jesse Skoch, Karen W. Gripp, Carlos E. Prada   +6 more
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Genetics of the Costello syndrome

American Journal of Medical Genetics, 1994
AbstractAlthough Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs of the probands were all normal. In 6 families on whom pedigrees were not available, 2 affected sib‐pairs were born.
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Costello Syndrome: a cancer predisposing syndrome?

Clinical Dysmorphology, 2000
Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and perianal papillomata. Heart malformations and/or hypertrophic cardiomyopathy are frequently observed.
I, Moroni, F, Bedeschi, R, Luksch, M, Casanova, L, D'Incerti, G, Uziel, A, Selicorni   +6 more
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Anaesthetic implications of Costello syndrome

Pediatric Anesthesia, 2003
Summary Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal).
Kelly, Katcher, Marcella, Bothwell, Joseph D, Tobias   +2 more
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Costello syndrome and neurological abnormalities

American Journal of Medical Genetics Part A, 2003
AbstractCostello syndrome is a rare but increasingly recognized syndrome of unknown etiology. Neurological abnormalities are not rare in this syndrome and consist of structural and electrophysiological disorders. Ventricular dilatation is observed in more than 40% of cases.
Marie-Ange, Delrue, Jean-François, Chateil, Benoit, Arveiler, Didier, Lacombe   +3 more
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Costello syndrome and hyperinsulinemic hypoglycemia

American Journal of Medical Genetics Part A, 2005
AbstractCostello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance ...
Saji, Alexander, Dina, Ramadan, Haya, Alkhayyat, Ibrahim, Al-Sharkawi, K C Aboo, Backer, Fatma, El-Sabban, Khalid, Hussain   +6 more
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Further delineation of Costello syndrome

American Journal of Medical Genetics, 1993
AbstractWe report on a 6‐year‐old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct “coarse” face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin deep set nails, enamel hypoplasia of teeth, and ...
A S, Teebi, I S, Shaabani
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Costello syndrome and related disorders

Current Opinion in Pediatrics, 2007
Costello syndrome is a rare congenital disorder affecting multiple organ systems, encompassing severe failure to thrive, cardiac anomalies including hypertrophic cardiomyopathy and atrial tachycardia, tumor predisposition, and cognitive impairment.
Emilio, Quezada, Karen W, Gripp
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Tumor predisposition in Costello syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2005
AbstractCostello syndrome (CS) is a rare congenital anomaly syndrome. Although it may be classified as an “overgrowth” syndrome due to slightly increased birth weight and relative macrocephaly, it is characterized by severe postnatal failure to thrive and short stature. Patients with CS have an increased risk for malignant tumors, a hallmark of several
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Cutaneous manifestations of Costello syndrome

International Journal of Dermatology, 2007
AbstractCutaneous findings are common in Costello syndrome, but have not been extensively reviewed in the dermatology literature. We present the cutaneous and histopathologic findings from two cases of Costello syndrome and review previously described cutaneous features of this syndrome. Both patients had manifestations of Costello syndrome with thick,
Victoria, Nguyen, Robert L, Buka, Brandie J, Roberts, Lawrence F, Eichenfield   +3 more
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