Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: Report of four sibs

American Journal of Medical Genetics

Volumn 77, Issue 1, 1998, Pages 1-7

  Nishimura, Gen ^a   Fukushima, Yoshimitsu ^b   Aihara, Toshinori ^c   Ohashi, Hirofumi ^c   Nishimoto, Hiroshi ^c   Nishimura, Jiro ^c  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Cataracts; Cleft palate; Craniosynostosis; Mental retardation; Skeletal dysplasia

Indexed keywords

ARTICLE; CASE REPORT; CATARACT; CLEFT PALATE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FEMALE; HUMAN; MALE; MENTAL DEFICIENCY; PEDIGREE; PRIORITY JOURNAL; RADIODIAGNOSIS; SPONDYLOEPIPHYSEAL DYSPLASIA;

ABNORMALITIES, MULTIPLE; CATARACT; CLEFT PALATE; CRANIOSYNOSTOSES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SYNDROME;

ILIA;

EID: 0032574638     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980428)77:1<1::AID-AJMG1>3.0.CO;2-V     Document Type: Article

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