1.A Case of Costello Syndrome with Severe Palmoplantar Keratoderma
Hak Jun KIM ; Woo Il KIM ; Won Ku LEE ; Gun Wook KIM ; Hoon Soo KIM ; Byung Soo KIM ; Moon Bum KIM ; Hyun Chang KO
Korean Journal of Dermatology 2019;57(8):496-497
No abstract available.
Costello Syndrome
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Keratoderma, Palmoplantar
3.Costello syndrome: three sporadic cases.
Ji Youn KIM ; Mi Jung KIM ; Eun Song SONG ; Young Kuk JHO ; Young Youn CHOI ; Ja Sook MA
Korean Journal of Pediatrics 2007;50(10):1024-1029
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.
Cardiomyopathy, Hypertrophic
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Codon
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Congenital Abnormalities
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Costello Syndrome*
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Developmental Disabilities
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Glycine
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Macrocephaly
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Maxillofacial Abnormalities
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Mutation, Missense
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Skin
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Tachycardia
4.Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Journal of Genetic Medicine 2019;16(1):1-9
Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40–50%), SOS1 (10–20%), RAF1 (3–17%), and RIT1 (5–9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
Congenital Abnormalities
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Costello Syndrome
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Diagnosis
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Ectoderm
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Electrocardiography
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Genitalia
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Genotype
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Heart Diseases
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Humans
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Hypertelorism
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Intellectual Disability
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Lentigo
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Noonan Syndrome
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Panthera
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Protein Kinases
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Puberty, Delayed
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Pulmonary Valve Stenosis
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Thorax