Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 374-378

  Al Kaissi, Ali ^a   Chehida, Farid Ben ^c   Gharbi, Hassan ^c   Ghachem, Maher Ben ^a   Hendaoui, Lotfi ^b   Hennekam, Raoul C M ^d,e,f  

^a CHILDREN S HOSPITAL   (Tunisia)

^b MONGI SLIM HOSPITAL   (Tunisia)

^c Ibn Zohr Institute   (Tunisia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Autosomal dominant; Familial; Omovertebral bone; Pelvis hypoplasia; Spinal segmentation defects; Sprengel anomaly

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CERVICAL SPINE; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; HOMOZYGOSITY; HUMAN; HYPERPLASIA; HYPERTELORISM; MALE; MENTAL DEFICIENCY; OMOVERTEBRAL BONE; PALPEBRAL FISSURE ANOMALY; PELVIS; PRIORITY JOURNAL; PTOSIS; RIB; SACRUM; SPINE MALFORMATION; SPINE RADIOGRAPHY; SPRENGEL ANOMALY; SYMPTOMATOLOGY; THENAR; THORACIC SPINE; VERTEBRAL SEGMENTATION DEFECT;

EID: 27444434899     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30968     Document Type: Article

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