PMID: 7019832Jan 1, 1981Paper

The Coffin-Siris syndrome. A report of four cases and review of the literature

Pediatric Radiology
J LucayaG Pons-Peradejordi

Abstract

Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints. Feeding difficulties and respiratory problems are common in infancy. Absence or hypoplasia of the distal and middle phalanges, especially those of the fifth finger and toes and retarded bone maturation are the most common radiological features.

References

May 1, 1979·Acta paediatrica Scandinavica·A Schinzel
May 1, 1979·Radiology·B P Wood, L W Young
Jul 1, 1978·American Journal of Diseases of Children·J C Carey, B D Hall
Jun 1, 1973·American Journal of Diseases of Children·W H WeiswasserD W Smith
Jul 1, 1971·American Journal of Diseases of Children·B Senior

❮ Previous
Next ❯

Citations

May 1, 1991·Journal of Medical Genetics·P Levy, M Baraitser
Oct 1, 1984·Clinical Genetics·M HaspeslaghH van den Berghe
Aug 12, 2003·American Journal of Medical Genetics. Part a·Nicola Brunetti-PierriMariacarolina Salerno
May 1, 1990·Journal of Medical Genetics·Q H QaziR S Verma
Feb 15, 2001·American Journal of Medical Genetics·B J FleckJ Bodurtha
Feb 14, 2009·American Journal of Medical Genetics. Part a·Ariel BrautbarMarwan Shinawi
Sep 6, 1996·American Journal of Medical Genetics·C Braun-QuentinD Kotzot
Aug 5, 2000·American Journal of Medical Genetics·E M McGheeE J Lammer
Oct 3, 2018·American Journal of Medical Genetics. Part a·Elizabeth A ManninoSamantha A Schrier Vergano
Apr 12, 2001·American Journal of Medical Genetics·T ImaiT Nakahata
Jan 19, 2008·American Journal of Medical Genetics. Part a·Anwar BabanTeresa De Toni
Aug 30, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Samantha S Vergano, Matthew A Deardorff
Nov 1, 1986·Indian Journal of Pediatrics·D Kumar
Feb 13, 2003·Journal of the American Academy of Dermatology·Daniel S WendelinSusan B Mallory

❮ Previous
Next ❯

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Related Papers

Acta paediatrica Scandinavica
A Schinzel
American Journal of Diseases of Children
W W TunnessenM B Levin
American Journal of Medical Genetics
C Braun-QuentinD Kotzot
Helvetica paediatrica acta
K UedaK Iinuma
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde
P MeineckeE Schaefer
© 2021 Meta ULC. All rights reserved