Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association.
We describe a case of VACTERL syndrome associated with type 1 unilateral caudal regression syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower limb, bilateral club foot, and single umbilical artery. Postmortem examination confirmed prenatal sonographic findings with additional findings of supernumerary rib at the lumbar level and anal atresia.
Gedikbasi
Ali
A
Department of Obstetrics and Gynecology, Perinatology Unit, Istanbul Bakirkoy Maternity and Children Diseases Hospital, Istanbul, Turkey.
Yararbas
Kanay
K
Yildirim
Gokhan
G
Yildirim
Dogukan
D
Arslan
Oguz
O
Gul
Ahmet
A
Ceylan
Yavuz
Y
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D001006:Anus, Imperforate / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008159:Lumbar Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D012447:Sacrum / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal / Q000379:methods*