The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.

Smith, Nicholas M.; Chambers, Helen; Furness, M. E.; Haan, Eric

doi:10.1136/jmg.29.10.730

Cited by 111 publications

(62 citation statements)

References 7 publications

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“…This indicates a "threshold defect" or an "all-or-none trait" of embryogenesis [Opitz, 19851. There is ample evidence that developmental field defects are always heterogeneous [Opitz and Gilbert, 1982;Opitz, 19851. However, in some instances, the midline defect may be the result of a single gene mutation [Toriello and Higgins, 1985;Baker et al, 1984;Opitz, 1985;Hingorani et al, 1991;Smith et al, 1992; this report].…”

Section: Postmortem Examination Of Sibmentioning

confidence: 93%

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome

et al. 1993

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We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well.

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Section: Postmortem Examination Of Sibmentioning

confidence: 93%

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome

et al. 1993

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“…Aneuploidy of sex chromosomes in some of these cases might point to loci involved in the formation of BEEC (1). The observation of different sexes in two subsequent sponta neous abortions, however, did not support this hypothesis (8). Apparently, none of these chromosomal abnormalities could be confirmed as the cause of this disorder.…”

Section: Discussionmentioning

confidence: 79%

“…This hypothesis was based on observations of rare familial cases, high but incomplete concordance in monozygotic twins, and a single report of increased recurrence risk for BEEC in the offspring of an affected parent (6)(7)(8).…”

Section: Discussionmentioning

confidence: 99%

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Nishi

Martins

Costa

et al. 2013

Arq Bras Endocrinol Metab

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SummaryChromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation. Arq Bras Endocrinol Metab. 2013;57(2):148-52 SumárioAberrações cromossômicas ou síndromes genéticas associadas ao complexo extrofia de bexiga e de cloaca e epispadia são raramente relatadas. O objetivo é descrever uma paciente brasileira com 14 anos que apresenta uma malformação urogenital complexa, baixa estatura, ausência de características sexuais secundárias e alteração do cromossomo Y. Uma menina com extrofia de bexiga e de cloaca e epispadia foi encaminhada para avaliação de baixa estatura e ausência de desenvolvimento de características sexuais secundárias. Níveis pré-puberais de gonadotrofinas e esteroides sexuais foram observados no início da avaliação, mas durante o seguimento notou-se um aumento progressivo dos níveis de testosterona. Ela foi submetida à gonadectomia e identificou-se a presença de testículos sem características disgenéticas. O cariótipo era 46,X,inv(Y)(p11.1q11.2), com sequência normal do SRY e ausência de deleções do Y. A inversão pericêntrica do cromossomo Y, aparentemente, não contribuiu para o desenvolvimento da malformação urogenital complexa nessa paciente. Atualmente, nenhum agente teratogênico, fator ambiental ou mutações gênicas foram reconhecidos como fatores etiológicos para essa malformação urogenital. Arq Bras Endocrinol Metab. 2013;57(2):148-52

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“…OEIS complex has been reported in siblings from different pregnancies [3]. Association of OEIS with deletion of chromosome 1p36 has been reported [5].…”

Section: Congenital Malformationsmentioning

confidence: 98%

“…OEIS complex is a severe form in spectrum of congenital defects of exstrophy-epispadias sequence, which includes phallic separation with epispadias, pubic diastasis, exstrophy of bladder, cloacal exstrophy and OEIS complex [3].…”

Section: Congenital Malformationsmentioning

confidence: 99%

A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings

Mamatha

Yelikar

Deshpande

et al. 2017

JCDR

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Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4 th week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases. In severe cases, termination of pregnancy is considered. A primigravida with 28 weeks of gestation had delivered a live baby with multiple congenital anomalies; baby died after 10 minutes. These anomalies were grouped under OEIS complex.

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The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.

Cited by 111 publications

References 7 publications

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings

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