Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

American Journal of Medical Genetics

Volumn 137 A, Issue 2, 2005, Pages 117-124

  Adam, Margaret P ^a,h   Hennekam, Raoul C M ^b   Keppen, Laura Davis ^c   Bull, Marilyn J ^d   Clericuzio, Carol L ^e   Burke, Leah W ^f   Ormond, Kelly E ^g   Hoyme, H Eugene ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY OF SOUTH DAKOTA   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^g NORTHWESTERN UNIVERSITY   (United States)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Fractures; Marshall Smith syndrome; Osteochondrodysplasia

Indexed keywords

ARTICLE; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; FACIES; FAILURE TO THRIVE; FEMALE; FOREHEAD; FRACTURE; HUMAN; MALE; MARSHALL SMITH SYNDROME; MARSHALL SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; NOSE; ORBIT; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCLERA; SURVIVAL TIME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FACE; FAILURE TO THRIVE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; OSTEOCHONDRODYSPLASIAS; RESPIRATION DISORDERS; SYNDROME;

EID: 24344458434     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30580     Document Type: Article

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