PMID: 9557886Apr 29, 1998Paper

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies

American Journal of Medical Genetics
K E CoêlhoN Niikawa

Abstract

Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder.

References

Feb 1, 1992·American Journal of Medical Genetics·C R WilesD O Sillence
Jan 1, 1966·The Journal of Pediatrics·W R ForneyD J Pascoe
May 15, 1994·American Journal of Medical Genetics·L O LangerC Clericuzio

❮ Previous
Next ❯

Citations

Jul 20, 2007·Human Molecular Genetics·Claire Farrington-RockDeborah Krakow
Sep 3, 2009·American Journal of Medical Genetics. Part a·Bertrand IsidorAlbert David
Apr 15, 2000·American Journal of Medical Genetics·L H Seaver, E Boyd
May 7, 2002·American Journal of Medical Genetics·Christina HoneywellJudith Allanson
Jun 9, 2006·Pediatric Radiology·Magnus BreitlingMichael Rabin
Mar 17, 2007·American Journal of Medical Genetics. Part a·Shubha R PhadkeNarendra Krishnani
Feb 8, 2008·American Journal of Medical Genetics. Part a·Diana MitterPeter Meinecke
Apr 5, 2008·American Journal of Medical Genetics. Part a·Nicola Brunetti-PierriMariacarolina Salerno
May 13, 2008·American Journal of Medical Genetics. Part a·B IsidorS Jacquemont
May 14, 2005·Skeletal Radiology·A Al KaissiK Kozlowski

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

American Journal of Medical Genetics
C SteinerA P Marques-de-Faria
American Journal of Medical Genetics
C R WilesD O Sillence
American Journal of Medical Genetics
C HoneywellJ Allanson
© 2022 Meta ULC. All rights reserved