1/12. Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome.A newborn female is described with bilateral anophthalmia and oesophageal atresia. This is the seventh reported case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/12. colon atresia, facial hemiaplasia, and anophthalmia: a case report.A case of a newborn with atresia of the transverse colon and right facial hemiaplasia, anophthalmia, and cerebral dysfunction is reported. colon atresia is a rare cause of congenital bowel obstruction and often associated with other malformations such as abdominal wall defects, gastrointestinal, cardiac, urogenital, and musculosceletal lesions. Facial hemiaplasia may arise in frame of chromosomal defects or as a result of neurovascular compromise caused by congenital amniotic bands. However, the combination of colon atresia and facial hemiaplasia has not been reported before.- - - - - - - - - - ranking = 1.4keywords = atresia (Clic here for more details about this article) |
3/12. Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.We report a boy with a nasal deformity, choanal atresia, bifid uvula, severe bilateral microphthalmia and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement. We suggest he represents a further case of the rare Fryns "Anophthalmia-Plus" syndrome.- - - - - - - - - - ranking = 0.2keywords = atresia (Clic here for more details about this article) |
4/12. Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?We report on a child with bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is the first case observed in the Spanish Collaborative Study of Congenital Malformations (ECEMC) with this constellation of congenital anomalies, and it is similar to that described in 1988 by Rogers. We think that it may constitute a new syndrome.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
5/12. association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.We report four new cases of the rare association of anophthalmia and esophageal atresia. There are only nine cases previously reported in the literature with this association. Our cases appear to be distinct from those already reported, thus increasing the number of cases to thirteen. Advances in developmental biology have shown that mutations in developmental genes active early in embryogenesis can lead to birth defects in multiple, seemingly unrelated systems. The network of genes that directs development has been highly conserved through evolution. Several transcription factors have been shown to be important in regulating eye development. Mutations in these developmental genes may be the cause of this clinical association.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
6/12. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center. 7, 57.] has a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(q28;p21.3). The deletion and translocation breakpoints on chromosome 3q are >8.6 Mb apart and both chromosome rearrangements have occurred de novo. Another published case [Petrackova et al. (2004) association of oesophageal atresia, anophthalmia and renal duplex. Eur. J. Pediatr., 163, 333-334.] has a de novo nonsense mutation, Q55X. A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for dna-binding of SOX2. In a yeast one-hybrid assay, this mutation abolishes Sox2-induced activation of the chick delta-crystallin DC5 enhancer. Four other reported AEG syndrome cases were extensively screened and do not have detectable SOX2 mutations. Two of these cases have unilateral eye malformations. SOX2 mutations are known to cause severe bilateral eye malformations but this is the first report implicating loss of function mutations in this transcription factor in oesophageal malformations. SOX2 is expressed in the developing foregut in mouse and zebrafish embryos and an apparently normal pattern of expression is maintained in Shh-/- mouse embryos, suggesting either that Sox2 acts upstream of Shh or functions in a different pathway. Three-dimensional reconstructions of the major morphological events in the developing foregut and eye from Carnegie Stages 12 and 13 human embryos are presented and compared with the data from model organisms. SOX2, with NMYC and CHD7, is now the third transcriptional regulator known to be critical for normal oesophageal development in humans.- - - - - - - - - - ranking = 0.4keywords = atresia (Clic here for more details about this article) |
7/12. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution.- - - - - - - - - - ranking = 1.2keywords = atresia (Clic here for more details about this article) |
8/12. Cryptophthalmos with an orbital cyst and profound mental and motor retardation.The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. syndactyly and renal anomalies were not observed.- - - - - - - - - - ranking = 0.4keywords = atresia (Clic here for more details about this article) |
9/12. anophthalmos in an infant with multiple congenital anomalies.A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.- - - - - - - - - - ranking = 0.2keywords = atresia (Clic here for more details about this article) |
10/12. association of anophthalmia and esophageal atresia.We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other hand generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a development field. Concurrence of these defects appears to be non-random.- - - - - - - - - - ranking = 1.2keywords = atresia (Clic here for more details about this article) |
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