title: OEIS complex with craniofacial anomalies--defect of blastogenesis?
abstract: We report on a 31-week fetus with hydrocephalus, hypertelorism, microtia, short neck, vertebral and rib defects, scoliosis, omphalocele, exstrophy of bladder, absent external genitalia and pubic rami, imperforate anus, diaphragmatic hernia, defective lobulation of lungs, single kidney, bicornuate uterus, and flexion deformities of the limbs. Similar extensive anomalies in the rostral and caudal regions were described by Russell et al. [Pediatrics, 67:176-182, 1981] and Stewart et al. [Am J Med Genet, 45:426-429, 1993]. The patients described by them had a combination of the oculo-auriculo-vertebral sequence (OAV) and caudal deficiency sequence, whereas the patient reported here can best be described as a combination of OAV and OEIS (omphalocele, exstrophy of bladder, imperforate anus, spinal defects) complexes. The widespread malformations seen in our patient may be the result of an error during blastogenesis.
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors: A
authors: A
authors: Haldar
authors: A K
authors: AK
authors: Sharma
authors: S R
authors: SR
authors: Phadke
authors: A
authors: A
authors: Jain
authors: S S
authors: SS
authors: Agarwal
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology*; D001006:Anus, Imperforate / Q000196:embryology; D001746:Bladder Exstrophy / Q000196:embryology; D006053:Goldenhar Syndrome / Q000150:complications / Q000196:embryology*; D006554:Hernia, Umbilical / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D008648:Mesoderm; D013131:Spine / Q000002:abnormalities