OEIS complex with craniofacial anomalies-defect of blastogenesis?

Haldar, Ashutosh ; Sharma, Anita K. ; Phadke, Shubha R. ; Jain, Anita ; Agarwal, S. S. (1994) OEIS complex with craniofacial anomalies-defect of blastogenesis? American Journal of Medical Genetics, 53 (1). pp. 21-23. ISSN 0148-7299

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Official URL: http://www3.interscience.wiley.com/journal/1105255...

Related URL: http://dx.doi.org/10.1002/ajmg.1320530105


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-au-riculo-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.

Item Type:Article
Source:Copyright of this article belongs to John Wiley and Sons, Inc.
Keywords:Blastogenesis; OEIS; Oculo-auriculo-vertebral Sequence; Axial Mesodermal Dysplasia
ID Code:73
Deposited On:16 Sep 2010 10:44
Last Modified:12 May 2011 03:54

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