Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion.
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.
Kaciński
Marek
M
Department of Pediatric Neurology, Jagiellonian University, Krakow, Poland. m_scigalska@yahoo.co.uk
Jaworek
Magdalena
M
Skowronek-Bała
Barbara
B
D001003:Anal Canal / Q000002:abnormalities; D001763:Blepharoptosis / Q000151:congenital; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics* / Q000473:pathology*; D012007:Rectum / Q000002:abnormalities; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000473:pathology