Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects.
Omphalocele-Exstrophy-Imperforate anus-Spinal defects (OEIS complex), a combination of omphalocele, exstrophy of the bladder, an imperforate anus and spinal defects, arises from a single localized defect in the early development of the mesoderm that will later contribute to infraumbilical mesenchyme, cloacal septum, and caudal vertebrae. In this report, we document the perinatal features of two cases of OEIS complex associated with meningomyeloceles and severe lower limb defects, and discuss the prenatal diagnosis, inheritance, and differential diagnosis of this association of malformations. Although long-term survival can be achieved by successful corrective surgery, the associated structural defects such as large meningomyelocele and severe limb aplasia or hypoplasia, as seen in our patient, can influence the patient's quality of life. We would like to emphasize that an accurate prenatal diagnosis of OEIS complex and associated malformations is important for the detailed counseling of the family as well as appropriate perinatal management by the obstetricians, pediatric surgeons, urologists, neurosurgeons, and neonatologists.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Shih
S L
SL
Liu
F F
FF
Jan
S W
SW
Jeng
C J
CJ
Lan
C C
CC
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001006:Anus, Imperforate / Q000150:complications / Q000175:diagnosis*; D001132:Arm / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006554:Hernia, Umbilical / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D008591:Meningomyelocele / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D013131:Spine / Q000002:abnormalities*