Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

Child's Nervous System

Volumn 28, Issue 9, 2012, Pages 1447-1463

  Agochukwu, Nneamaka B ^a,b   Solomon, Benjamin D ^a   Muenke, Maximilian ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Craniosynostosis; Craniosynostosis syndromes; Diagnosis craniosynostosis; FGFR craniosynostosis; Management craniosynostosis; Syndromic craniosynostoses

Indexed keywords

ANTIBIOTIC AGENT; ARGININE; EPHRIN B1; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; LUBRICATING AGENT; PROLINE; TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; AMBLYOPIA; ANKYLOSIS; ARTICLE; BLEEDING; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHRONIC OTITIS MEDIA; CLEFT PALATE; CLINICAL EVALUATION; CLINICAL FEATURE; COCHLEA PROSTHESIS; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; COR PULMONALE; CORNEA ULCER; CRANIECTOMY; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; CROUZON SYNDROME; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; EYELID DISEASE; EYELID MOVEMENT; FAMILY HISTORY; FEEDING DISORDER; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEARING AID; HEARING LOSS; HEART DISEASE; HEREDITY; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; IMPLANTATION; INTELLECTUAL IMPAIRMENT; INTRACRANIAL HYPERTENSION; KARYOTYPE; KERATITIS; LABORATORY TEST; LACRIMAL GLAND DISEASE; LIMB DISEASE; LIMB MALFORMATION; MEDICAL HISTORY; MOLECULAR GENETICS; MUENKE SYNDROME; NERVE CELL DIFFERENTIATION; OPHTHALMOSCOPY; PALPEBRAL FISSURE; PAPILLEDEMA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGNOSIS; PTOSIS; SCAR FORMATION; SLEEP APNEA SYNDROME; STATISTICAL ANALYSIS; STRABISMUS; SYNOSTOSIS; TRACHEOSTOMY; TYMPANOSTOMY TUBE; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER;

ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; FOLLOW-UP STUDIES; HISTORY, 20TH CENTURY; HUMANS; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84866064317     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-012-1756-2     Document Type: Article

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