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.

Omphalocoele-Exstrophy-Imperforate Anus-Spinal Defects Complex in Dizygotic Twins

“…In accordance to the presented case, indefi nite gender, single umbilical artery, and anomalies of the lower extremities such as talipes equinovarus are often associated with the OEIS complex [5][6][7] . The other female twin was apart from the high birth weight (1,835 g for 29 weeks of gestation) normal.…”

Bladder exstrophy‐epispadias complex

“…One of two unrelated patients with the combination of congenital cutaneous aplasia and epibulbar dermoids was also reported to have CBE (Lees et al, 2000). Another association, axial mesodermal dysplasia, combining epibulbar dermoids and CBE (Russell et al, 1981) suggests that axial mesodermal dysplasia and BEEC share a common developmental defect (Haldar et al, 1994). The genes responsible for all of these observations remain to be identified and should be considered possible candidates for nonsyndromic forms of BEEC.…”

Phenotypic variability of distal 22q11.2 copy number abnormalities

“…Mullerian abnormalities are often associated with renal and vertebral anomalies (MURCS; Mullerian anomalies, renal agenesis/ ectopy, cervicothoracic somite association), with phenotypic overlap between VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, limb) association and OAVS [Bergmann et al, 2003]. Additionally, a genetic link between OAVS, CHARGE (Coloboma, heart defects, atresia choanae, renal/retardation, genital; OMIM 214800) syndrome, VACTERL/VATER, MURCS, and OEIS (omphalocele, exstrophy of bladder, imperforate anus, spinal defects; OMIM) has been raised by various groups [Haldar et al, 1994;Van Meter and Weaver, 1996;Bergmann et al, 2003;Kallen et al, 2004], and also grouped as the ''Axial Mesodermal Dysplasia Complex'' (AMDC) in patients with bridging phenotypes [Russell et al, 1981;Bergmann et al, 2003]. The clinical findings of Patients 1 and 2 raise the possibility that distal chromosome 22q11.2 microdeletions may affect genes involved in the development of the multiple fields affected in OAVS and MURCS (and potentially the AMDC spectrum), either directly, or through a positional effect.…”