Further delineation of the Opitz G/BBB syndrome: Report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature

Jacobson, Z.; Glickstein, Julie S.; Hensle, Terry W.; Marion, Robert W.

doi:10.1002/(sici)1096-8628(19980707)78:3<294::aid-ajmg18>3.0.co;2-a

Cited by 22 publications

(12 citation statements)

References 38 publications

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“…There are at least two reports of patients with frontonasal dysplasia and CE, suggesting a common etiology (Neidich et al, 1988; Robin et al, 1996) owing to disturbed development of the midline structures. Evidence for an X‐chromosomal locus comes from two patients presenting with X‐linked Goltz syndrome and CE and one infant exhibiting CBE in combination with the Opitz G/BBB syndrome (Jacobson et al, 1998), a defect of midline development, caused by mutations in the MID1‐gene on Xp22 (Quaderi et al, 1997). 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).…”

Section: Discussionmentioning

confidence: 99%

Bladder exstrophy‐epispadias complex

Ludwig

Ching

Reutter

et al. 2009

Birth Defects Research

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The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered.

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Section: Discussionmentioning

confidence: 99%

Bladder exstrophy‐epispadias complex

Ludwig

Ching

Reutter

et al. 2009

Birth Defects Research

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“…Oral manifestations other than clefts of lip and palate include high arched palate, ankyloglossia, micrognathia and, only in one case, hypodontia [Brooks et al, 1992; Gaudenz et al, 1998]. Malrotation and bladder exstrophy, reported in OS cases [Robin et al, 1996; Jacobson et al, 1998], have not been found to date in patients with MID1 alterations. The XLOS cases included in Robin et al [1996] should correspond to patients with alteration in the MID1 gene, although this was documented in only few cases.…”

Section: Discussionmentioning

confidence: 99%

X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

Falco

Cainarca

Andolfi

et al. 2003

American J of Med Genetics Pt A

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Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X-linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.

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“…Additional evidence for causal heterogeneity is provided by the reports of patients with EC and/or the OEIS complex in association with well‐recognized syndromes, such as the Opitz/BBB syndrome [Jacobson et al, 1998], the Goltz syndrome, trisomy 18 [Carey et al, 1978], the oculo‐auriculo‐vertebral sequence [Haldar et al, 1994], and frontonasal “dysplasia” (or dysostosis) [Robin et al, 1996], and with a recently‐described syndrome characterized by mitochondrial 12SrRNA mutation, aminoglycoside‐induced deafness, pigmentary disturbances, and spinal anomalies [Nye et al, 2000]. Furthermore, Carey et al [1978] and Lizcano et al [1995] have reported the “OEIS complex” in two offspring of women taking diphenylhydantoin and diazepam, respectively.…”

Section: Discussionmentioning

confidence: 99%

Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect

et al. 2001

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Exstrophy of the bladder (EB) and exstrophy of the cloaca (EC) are generally recognizable as distinct clinical entities. In patients with EB, the posterior bladder wall is exposed through a midline defect of the abdomen. The umbilicus is inferiorly displaced and located close to the superior margin of the exstrophic bladder. Genital abnormalities are common in boys and girls who may present epispadias and a small, split phallus or a split clitoris, a bifid uterus, and a duplicate or exstrophic vagina. In contrast to classic EB, EC is commonly associated with omphalocele, spinal defects, and incompletely formed external genitalia and is always associated with imperforate anus. Some authors state that EC and EB constitute two distinct disorders, but others consider them part of a "continuum," representing different levels of severity within the same spectrum. The use of the acronym OEIS to refer to the combination of omphalocele, exstrophy, imperforate anus, and spinal defects, in our opinion, has not helped to clarify the clinical definition, pathogenesis, or cause of this multiple congenital anomaly (MCA) pattern, mostly because the term makes no distinction between EC or EB. Here we present the epidemiological analysis of a group of characteristics in infants with EC and infants with EB to determine if they constitute two different entities. We also analyze if the different combinations of omphalocele, imperforate anus, and spinal defects are more frequent in infants with EC than in infants with MCA patterns other than EC and EB. The prevalence in our data for EC was 1:200,233 live births and 1:35,597 for EB. The clinical analysis indicated that the study defects (omphalocele, spine defects, spina bifida, and imperforate anus) tend to occur together in the same child with a higher frequency if the child has the EC defect than in infants with MCA patterns that did not include EC or EB. Our findings of low birth weight, twinning, single umbilical artery, and preferentially associated malformations suggest that EC is the result of damage occurring very early in development and that EC and EB are two different expressions of a primary polytopic developmental field defect.

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Further delineation of the Opitz G/BBB syndrome: Report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature

Cited by 22 publications

References 38 publications

Bladder exstrophy‐epispadias complex

Bladder exstrophy‐epispadias complex

X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect

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