An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2607-2611

  Kannu, Peter ^a,b   McFarlane, Jeannette H ^c   Savarirayan, Ravi ^a,b   Aftimos, Salim ^d  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Anatomical Pathology   (New Zealand)

^d Northern Regional Genetics Service   (New Zealand)

Author keywords

Campomelia; Laterality; Micromelia; Polydactyly; Recessive

Indexed keywords

ACROMESOMELIC HYPOMINERALIZATION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE MALFORMATION; CALCIFICATION; CAMPTOMELIA; CASE REPORT; CHONDRODYSPLASIA; CLINICAL EXAMINATION; DISEASE CLASSIFICATION; ECTOPIC TISSUE; FEMUR; FIBULA; HUMAN; HUMERUS; HYPOPLASIA; INTESTINE MALROTATION; PANCREAS DISEASE; PREGNANCY COMPLICATION; PRIORITY JOURNAL; RADIODIAGNOSIS; RADIUS; ULNA;

ABNORMALITIES, MULTIPLE; ADULT; BONE AND BONES; CALCINOSIS; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; OSTEOCHONDRODYSPLASIAS; POLYDACTYLY; PREGNANCY; PREGNANCY COMPLICATIONS; SHORT RIB-POLYDACTYLY SYNDROME; SIBLINGS;

EID: 35848971236     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31989     Document Type: Article

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