Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies-Reference-Cited by-同舟云学术

Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies

Published:1993-10 Issue:6 Volume:23 Page:442-445
ISSN:0301-0449
Container-title:Pediatric Radiology
language:en
Short-container-title:Pediatr Radiol

Author:

Kozlowski K.,Sillence D.,Taylor F.

Publisher

Springer Science and Business Media LLC

Subject

Radiology, Nuclear Medicine and imaging,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF02012444.pdf

Reference8 articles.

1. Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, Oxford

2. Buyse ML (1990) Birth defects encyclopedia. Blackwell Scientific, Oxford

3. Taybi H, Lachman RS (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasia. Year Book, Chicago London

4. Kozlowski K, Collis J, Suter M, Sillence D (1988) The rib gap anomaly in partial or mosaic trisomy 8. Skeletal Radiol 17: 251–254

5. Faure C, Valleur D, Vital JL (1978) Le syndrome cerebro-costomandibulaire: trois nouvelles observations. Nouv Presse Med 7: 445–448

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1. Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing;Orphanet Journal of Rare Diseases;2024-04-01

2. Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability;European Journal of Medical Genetics;2015-01

3. Bilateral Scaphotrapezium Coalition with Bilateral Scaphoid Nonunion in a Patient with Klippel–Feil Syndrome: A Case Report;HAND;2010-11-03

4. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. K;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007