Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome

Abstract

A newborn female is described with bilateral anophthalmia and oesophageal atresia. This is the seventh reported case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome.

Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation

“…The severe intrauterine growth retardation present in our proposita has been before observed in patients with AMEAS [Imaizumi et al, —Patient 1, Zenteno et al, ]. Not all patients with AMEAS have the SOX2 gene mutation, as it has been found to date only in 7/13 patients molecularly studied [Rogers, ; Menetrey et al, ; Petrackova et al, ; Morini et al, ; Kelberman et al, ; Williamson et al, ; Zenteno et al, ; Bakrania et al, ; Chassaing et al, ]; all phenotypically characterized by bilateral eye disease and absence of vertebral defects [Williamson et al, ] have a SOX2 mutation, although with variable expressivity in relation with the TEF, CNS, and urogenital malformations [Zenteno et al, ]. The siblings carrying SOX2 mutation due to gonadal mosaicism in an unaffected mother reported by Chassaing et al [] and the twin brothers studied by Zenteno et al [] also extend the SOX2 malformation spectrum from normal ocular development to AMEAS.…”

“…Additionally, patients with AMEAS can also display anomalies at the central nervous system (CNS), craniofacial region, vertebras, and ribs, and on cardiovascular system [Arroyo et al, ]. Currently 23 patients with AMEAS have been reported [Schenk et al, ; Sassani and Yanoff, ; Rogers, ; Arroyo et al, ; Sandler et al, ; Ulman et al, ; Shah et al, ; Imaizumi et al, ; Menetrey et al, ; Messina et al, ; Bonneau et al, ; Petrackova et al, ; Bardakjian and Schneider, ; Hill et al, ; Morini et al, ; Kelberman et al, ; Williamson et al, ; Zenteno et al, ; Bakrania et al, ; Chassaing et al, ]. The heterozygous loss of function in the coding region of SRY (sex determining region Y)‐box 2 gene ( SOX2 ) has been previously identified in 10–15% of patients with bilateral AO/MO [Williamson et al, ].…”

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

“…In the remaining two patients, CMA detected microdeletions encompassing SOX2 . We summarize the clinical phenotype of these three patients and four SOX2 microdeletion patients from the DECIPHER database and the literature [Alatzoglou et al, ; Salem et al, ]; and review the phenotype of 89 previously reported patients in whom SOX2 mutations or whole gene deletions had been detected by analyses performed due to the presence of A/M or AEG syndrome [Menetrey et al, ; Fantes et al, ; Hagstrom et al, ; Ragge et al, ; Zenteno et al, ; Faivre et al, ; Kelberman et al, ; Sisodiya et al, ; Williamson et al, ; Zenteno et al, ; Bakrania et al, ; Chassaing et al, ; Sato et al, ; Kelberman et al, ; Schneider et al, , ; Zhou et al, ; Numakura et al, ; Alatzoglou et al, ; Stark et al, ; Gerth‐Kahlert et al, ; Ragge et al, ; Schilter et al, ].…”

Anophthalmia‐esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes

“…In 1988, Rogers reported a newborn with the clinical combination of bilateral anophthalmia, esophageal atresia, and glandular hypospadias [Rogers, 1988]. Since then, at least 17 patients with a remarkably similar clinical picture associating ocular (anophthalmia, microphthalmia, or coloboma), upper gastrointestinal (esophageal atresia invariably associated to tracheoesophageal fistula), and genital (hypospadias, cryptorchidism) anomalies have been described [Arroyo et al, 1992; Sandler et al, 1995; Ulman et al, 1996; Shah et al, 1997; Imazumi et al, 1999; Menetrey et al, 2002; Messina et al, 2003; Bonneau et al, 2004; Petrackova et al, 2004; Bardakjian and Schneider, 2005; Hill et al, 2005; Morini et al, 2005]. This syndromic entity is now listed in the OMIM catalog under the name of anophthalmia/microphthalmia and esophageal atresia (AMEA; entry 600992).…”