The perinatal presentation of cardiofaciocutaneous syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2036-2042

  Wong Ramsey, Kara N ^a   Loichinger, Matthew H ^a   Slavin, Thomas P ^a,b   Kuo, Sheree ^a,b   Seaver, Laurie H ^a,b  

^a UNIVERSITY OF HAWAII   (United States)

^b Kapiolani Medical Specialists   (United States)

Author keywords

BRAF; Cardiofaciocutaneous syndrome (CFC); Hypertension; Hyponatremia; Loose anagen hair; MAP2K1; MAP2K2; Neonatal; Perinatal; Pleural effusion; Ras MAP kinase; Rasopathies; Respiratory complication

Indexed keywords

ALDOSTERONE; ANDROSTENEDIONE; ANTIBIOTIC AGENT; B RAF KINASE; CAPTOPRIL; CARBAMAZEPINE; CLONIDINE; DIURETIC AGENT; DOPAMINE; HYDRALAZINE; HYDROCHLOROTHIAZIDE PLUS SPIRONOLACTONE; HYDROCORTISONE; HYDROXYPROGESTERONE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PROPRANOLOL; RENIN; SILDENAFIL; SODIUM ION; STEROID; TESTOSTERONE;

ANTIBIOTIC THERAPY; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; BLOOD LEVEL; BRAIN HEMORRHAGE; BRAIN VENTRICLE PERITONEUM SHUNT; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CATARACT; CHRONIC LUNG DISEASE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DEVELOPMENTAL STAGE; DIET SUPPLEMENTATION; DISEASE COURSE; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; ENCEPHALOMALACIA; ENTERIC FEEDING; ESSENTIAL HYPERTENSION; EYE EXAMINATION; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FETUS ECHOGRAPHY; GENETIC DISORDER; GENETIC SCREENING; HEARING IMPAIRMENT; HEARING TEST; HEART ATRIUM SEPTUM DEFECT; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HEPATOMEGALY; HOSPITAL READMISSION; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYDRONEPHROSIS; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; HYPONATREMIA; INFANT; KIDNEY EXAMINATION; LABORATORY TEST; LIPOMA; LONG TERM CARE; LOOSE ANAGEN HAIR SYNDROME; LYMPHANGIOMA; MALE; MICROSCOPY; MISSENSE MUTATION; NEPHROLITHIASIS; NEUROIMAGING; NEWBORN INTENSIVE CARE NURSING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; PERINATAL PERIOD; PHYSICAL EXAMINATION; PLASMA OSMOLALITY; PLEURA EFFUSION; POSITIVE END EXPIRATORY PRESSURE; PREMATURITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RETROSPECTIVE STUDY; SEIZURE; SEIZURE SUSCEPTIBILITY; SEPSIS; SKIN BIOPSY; URETEROPELVIC JUNCTION OBSTRUCTION; URINE LEVEL; URINE OSMOLALITY; ECTODERMAL DYSPLASIA; FACIES; GENETICS; GESTATIONAL AGE; HAIR; HEART DEFECTS, CONGENITAL; MUTATION; NEWBORN; PATHOLOGY; PHENOTYPE; SKIN;

ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GESTATIONAL AGE; HAIR; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MAP KINASE KINASE 2; MUTATION; PHENOTYPE; SKIN;

EID: 84904436813     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36558     Document Type: Article

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