Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1345-1353

  Evans, Kelly N ^a,b   Gruss, Joseph S ^b,c   Khanna, Paritosh C ^d   Cunningham, Michael L ^a,b   Cox, Timothy C ^a,b,e   Hing, Anne V ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MONASH UNIVERSITY   (Australia)

Author keywords

Craniofacial malformations; Frontonasal dysplasia; Nasal anomalies; Oculo auriculo vertebral spectrum; Oculoauriculofrontonasal syndrome

Indexed keywords

ADOLESCENT; AMNIOCENTESIS; ARTICLE; BONE DYSPLASIA; BONE STRUCTURE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTONASAL DYSPLASIA; GENETIC ASSOCIATION; GOLDENHAR SYNDROME; HUMAN; HYPERTELORISM; KARYOTYPE 46,XX; MALE; NEWBORN PERIOD; OCULOAURICULOFRONTONASAL SYNDROME; OSSIFICATION; PHENOTYPE; PRENATAL EXPOSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; CASE REPORT; CLASSIFICATION; CONGENITAL MALFORMATION; EXTERNAL EAR; EYE MALFORMATION; FACE; GENETICS; GESTATIONAL AGE; HETEROTOPIC OSSIFICATION; MAXILLA; MULTIPLE MALFORMATION SYNDROME; NASAL BONE; NEWBORN; RADIOGRAPHY; RESPIRATORY TRACT MALFORMATION; SPINE;

NASO;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EAR, EXTERNAL; EYE ABNORMALITIES; FACE; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MALE; MAXILLA; NASAL BONE; OSSIFICATION, HETEROTOPIC; PHENOTYPE; RESPIRATORY SYSTEM ABNORMALITIES; RETROSPECTIVE STUDIES; SPINE;

EID: 84878216325     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35926     Document Type: Article

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