Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion
Marek Kaciński1, Magdalena Jaworek, Barbara Skowronek-Bała
1Department of Pediatric Neurology, Jagiellonian University, Krakow, Poland. m_scigalska@yahoo.co.uk
Abstract:
Caudal regression syndrome (CRS) is a rare combination of congenital abnormalities characterized by caudal vertebral agenesis/dysgenesis that is usually associated with congenital anomalies of spinal cord, gastrointestinal and genitourinary organs. Although the exact teratogenic mechanism is not known, same environmental, e.g., hyperglycemia and genetic factors appears to play a crucial role in this fetopathy. Herein, we report an unusual case of CRS associated with unspecific white matter lesions and 18p-syndrome manifested by congenital ptosis, hypothyroidism, facial dysmorphy and chromosome 18p11.2 deletion.
Related Concept Videos
Karyotyping
Pleiotropy
Meiosis I
Sex-linked Disorders
Sex Linked Disorders
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...


