A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1815-1822

  Baratela, Wagner A R ^a   Bober, Michael B ^a   Tiller, George E ^b   Okenfuss, Ericka ^c   Ditro, Colleen ^a   Duker, Angela ^a   Krakow, Deborah ^d   Stabley, Deborah L ^a   Sol Church, Katia ^a   Mackenzie, William ^a   Lachman, Ralph ^d   Scott, Charles I ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b Kaiser Permanente ^*  (United States)

^c KAISER PERMANENTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Developmental delay; Patellar dislocation; Skeletal dysplasia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATTENTION DISTURBANCE; BIFID UVULA; BONE DYSPLASIA; BRACHYMETACARPALIA WITH STUB THUMB; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DESBUQUOIS DYSPLASIA; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE PROFILE; FAMILY STUDY; FLATTENED MIDFACE WITH BROAD NASAL BRIDGE; GENETIC DISORDER; GENETIC SCREENING; HUMAN; MALE; MILD METAPHYSEAL CHANGE; MOLECULAR GENETICS; ONSET AGE; PATELLA DISLOCATION; PERSONALITY; PHENOTYPE; PLATYSPONDYLY; PRIORITY JOURNAL; SHALLOW ACETABULAR ROOF; SHORT FEMORAL NECK; SHORT TUBULAR BONE; SYNOPHRYS; X CHROMOSOME RECESSIVE DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; HUMANS; MALE; SYNDROME; YOUNG ADULT;

EID: 84864140600     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35445     Document Type: Article

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