Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?

American Journal of Medical Genetics. Part a
Vered ShkalimRachel Straussberg

Abstract

Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition.

References

Oct 1, 1968·Developmental Medicine and Child Neurology·J L Grogono
Apr 1, 1995·Prenatal Diagnosis·J K Gupta, R J Lilford
Nov 29, 2002·American Journal of Medical Genetics·Hans C AnderssonRichard Kelley
Mar 1, 2006·Pediatric Neurology·Maria Francesca BedeschiRenato Borgatti
Sep 6, 2007·The Journal of Bone and Joint Surgery. British Volume·A Siapkara, R Duncan
May 26, 2009·Nature Genetics·Xavier H JaglinJamel Chelly

Related Concepts

Multiple Congenital Anomalies
Congenital Clubfoot
Magnetization Transfer Contrast Imaging
Microlissencephaly
Genealogical Tree
Corpus Callosum Malformation
Brain
Corpus Callosum
Genetic Syndrome
Autosome

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.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.