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Image Case Report

Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease

Journal of Perinatology volume 32, pages 814–816 (2012)Cite this article

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The association of anopthalmia/microphthalmia and esophageal atresia was first reported in 1976 by Schenk.1 This association has often been called the AEG syndrome (anophthalmia, esophageal atresia, genital anomalies) due to the frequent additional finding of genital anomalies such as micropenis, cryptorchidism or hypospadis in males,2 but not present in our patient. It has been called also the SOX 2 anophthalmia syndrome3 due to the frequent mutations and/or deletions found in the SOX2 gene. Genital anomalies are present in only 33% of reported AEG syndrome patients.2 Vertebral anomalies, as present in this case, occur in ∼20% of patients.2 There have been several attempts to subdivide AEG patients. They are divided into those with bilateral anophthalmia and those with unilateral, the latter usually having less severe associated anomalies.1 Those with vertebral anomalies may have renal and radial anomalies, giving rise to the name VATER-like AEG syndrome.2 There is frequent association of anophthalmia/microphthalmia–esophageal atresia association with CNS abnormalities, particularly hydrocephalus, absent septum pellucidum, holoprosencephly and dysgenesis of the corpus callosum.1 Cardiovascular anomalies have also been described in several patients including patent ductus arteriosus (PDA) and ventricular septal defect (VSD).1

The patient presented here has several features not previously reported in VATER-like AEG syndrome, namely imperforate anus, severe cyanotic heart disease—DORV with dysplastic pulmonic valve, severe subpulmonic stenosis, sublottic stenosis and choanal atresia. The presence of choanal atresia and subglottic stenosis is not a feature of the VACTERL or VATER association but is seen in the CHARGE (Coloboma, Heart disease, Atresia choanae, Retarded growth, Genital and Ear anomalies) syndrome.4 The CHARGE syndrome itself is associated with esophageal atresia,5 but not with microphthalmia/anophthalmia.

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References

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine,

    T E Herman & M J Siegel

  2. St Louis Children's Hospital, St Louis, MO, USA

    T E Herman & M J Siegel

Authors
  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease. J Perinatol 32, 814–816 (2012). https://doi.org/10.1038/jp.2012.83

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