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...

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Bibliographic Details
Published in:Journal of clinical ultrasound 2009-10, Vol.37 (8), p.464-466
Main Authors: Gedikbasi, Ali, Yararbas, Kanay, Yildirim, Gokhan, Yildirim, Dogukan, Arslan, Oguz, Gul, Ahmet, Ceylan, Yavuz
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Adult
Anus, Imperforate - diagnostic imaging
Diagnosis, Differential
Female
fetal malformations
Humans
Kidney - abnormalities
Kidney - diagnostic imaging
Limb Deformities, Congenital - diagnostic imaging
Lumbar Vertebrae - abnormalities
Lumbar Vertebrae - diagnostic imaging
partial caudal regression syndrome
Pregnancy
prenatal diagnosis
Sacrum - abnormalities
Sacrum - diagnostic imaging
ultrasonography
Ultrasonography, Prenatal - methods
VACTERL syndrome
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Summary: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. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound 2009
ISSN:0091-2751
1097-0096
1097-0096
DOI:10.1002/jcu.20590