A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea

Seminars in Pediatric Neurology

Volumn 21, Issue 2, 2014, Pages 84-87

  Sellars, Elizabeth A ^a   Bosanko, Katherine A ^a   Lepard, Tiffany ^a   Garnica, Adolfo ^a   Schaefer, Gerald Bradley ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTLEY BIXLER SYNDROME; ARTICLE; B3GALT6 GENE; CASE REPORT; CORNEA DISEASE; CORNEA OPACITY; DISEASE COURSE; EHLERS DANLOS SYNDROME; FACE DYSMORPHIA; FEMUR FRACTURE; FRACTURE HEALING; GASTROJEJUNOSTOMY; GENE; GENE SEQUENCE; HUMAN; HYDRONEPHROSIS; JOINT CONTRACTURE; JOINT LAXITY; MALE; MICROARRAY ANALYSIS; MICROGNATHIA; MIDFACE HYPOPLASIA; MUTATIONAL ANALYSIS; NEWBORN; OSTEOPENIA; OXYGEN THERAPY; PES EQUINOVARUS; PNEUMONIA; RECURRENT ASPIRATION; SCLEROCORNEA; SKELETON MALFORMATION; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; STOMACH TUBE; TIBIA FRACTURE; WRIST; ANTERIOR EYE SEGMENT; ARTHROPATHY; BONE; CONGENITAL MALFORMATION; CORNEA; FATALITY; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION;

B3GALT6 PROTEIN, HUMAN; GALACTOSYLTRANSFERASE;

ABNORMALITIES, MULTIPLE; ANTERIOR EYE SEGMENT; BONE AND BONES; CORNEA; CORNEAL DISEASES; FATAL OUTCOME; GALACTOSYLTRANSFERASES; HUMANS; INFANT, NEWBORN; JOINT DISEASES; MALE; MUSCULOSKELETAL ABNORMALITIES;

EID: 84906791614     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2014.04.007     Document Type: Article

References (10)

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