Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology

American Journal of Medical Genetics, Part A

Volumn 140, Issue 14, 2006, Pages 1553-1563

  Elliott, Alison M ^a,b   Wilcox, William R ^b,c,d   Spear, Gerald S ^e   Field, Fiona M ^b   Steffensen, Thora S ^f   Friedman, Barbara D ^g   Rimoin, David L ^b,c,d   Lachman, Ralph S ^b,c,d  

^a UNIVERSITY OF MANITOBA   (Canada)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f Melrose Wakefield Hospital   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cloverleaf skull; Gracile long bones; Hallermann Streiff syndrome (HSS); Kleeblattsch del; Osteocraniostenosis

Indexed keywords

ARTICLE; BONE DISEASE; BONE RADIOGRAPHY; CARTILAGE CELL; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FACE DYSMORPHIA; FEMALE; GRACILE LONG BONE; GROWTH PLATE; HALLERMANN STREIFF SYNDROME; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPOMINERALIZED SKULL; LIP MALFORMATION; LONG BONE; MALE; MORPHOLOGY; MOUTH MALFORMATION; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; SHORT NOSE; SIBLING; SKULL DISEASE; SPLEEN DISEASE; SPLEEN HYPOPLASIA;

ADULT; BONE DENSITY; BONE DISEASES, DEVELOPMENTAL; FACIAL BONES; FEMALE; GROWTH PLATE; HALLERMANN'S SYNDROME; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE; PREGNANCY; SKULL; SPLEEN; SYNDROME;

EID: 33745614663     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31326     Document Type: Article

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