Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases

American Journal of Medical Genetics

Volumn 95, Issue 5, 2000, Pages 496-506

  Elliott, Alison M ^a   Roeder, Elizabeth R ^c   Witt, David R ^d   Rimoin, David L ^a,b   Lachman, Ralph S ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Kaiser Permanente ^*  (United States)

Author keywords

Iliac hypoplasia; Kosenow syndrome; Pelvis Shoulder dysplasia; Scapular hypoplasia; Scapuloiliac dysostosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; DYSOSTOSIS; FEMALE; GENETIC HETEROGENEITY; HUMAN; MALE; NEWBORN; PELVIS; PRIORITY JOURNAL; RIB MALFORMATION; SCAPULA; SHOULDER; SPINE MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; AUTOPSY; DYSOSTOSES; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENITALIA, FEMALE; GENITALIA, MALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PELVIS; SCAPULA; SHOULDER; SYNDROME;

EID: 0034684726     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001218)95:5<496::AID-AJMG16>3.0.CO;2-E     Document Type: Article

References (9)

1. Scapuloiliac dysostosis
2. Dysplasie Pelvi-scapulaire familiale avec anomalies epiphysaires, nanisme et dysmorphies: Un nouveau syndrome?
3. Pelvis-shoulder dysplasia
4. Becken-Schulter Dysplasie
5. Mutations involving the transcription factor CFBA1 cause cleidocranial dysplasia
6. Seapuloiliac dyostosis with multiple congenital anomalies
7. Pelvis-shoulder Dysplasia
8. Tetradactylie des deux mains, Hypoplasie des deux perones et hypoplasie scapulo-iliaque: Un nouveau syndrome?