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Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging

Journal of Perinatology volume 33, pages 245–247 (2013)Cite this article

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Occipital encephaloceles may occur as isolated anomalies or in association with genetic syndromes or well-defined congenital malformation anomalies, some of which are defined by the presence of an occipital encephalocele. A multiple malformation condition was considered in this patient with an occipital encephalocele, duodenal web, pelvic kidney and anterior ectopic anus. The conditions most frequently associated with occipital encephaloceles include von Voss Cherstvoy syndrome, Knobloch syndrome, Meckel Gruber syndrome, Jouberg syndrome, Walker Warburg syndrome and KFS.1 Von Voss Cherstvoy is a possibly autosomal recessive condition associated with absent radius, but usually with a thumb, and transient neonatal thrombocytopenia.2 Knobloch syndrome and Walker Warburg syndrome are autosomal recessive conditions both associated with ophthalmologic abnormalities not present in this patient. Meckel Gruber syndrome and Joubert syndrome are genetically related autosomal recessive ciliopathies but with distinctly different phenotypes. Polydactyly and cystic kidneys are present in Meckel Gruber syndrome. Jouberg syndrome consists of cerebellar vermian aplasia and various, ataxia and abnormal eye movements. In our patient, the cervical spinal anomalies are those of KFS.

KFS is a congenital spinal malformation with failure of segmentation of two or more cervical vertebral bodies.3 KFS can be associated with other skeletal anomalies including scoliosis, Sprengel anomaly, omovertebral bone, craniolacunae and nonskeletal anomalies including renal anomalies, Mullerian anomalies, cardiovascular anomalies, central nervous system abnormalities including synrinx, iniencephalus, anencephalus and occipital encephalocele.4, 5 There is a high frequency of reported genitourinary anomalies in KFS, especially renal anomalies. The most common renal anomalies associated with KFS are unilateral renal agenesis, or renal ectopia, pelvic kidney,6 as seen in the patient reported here. However, in females there is also a significant association of Klippel Feil and renal agenesis with Mullerian duct anomalies. This association has been called the MURCS association—MUllerian, Renal, Cervical Somite association.7 The most frequent findings are aplasia or hypoplasia of the Mullerian structures. This child will be followed-up with pelvic sonography at an appropriate age to evaluate for Mullerian anomalies.

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

  2. Division of Neonatology, Mallincrkodt Department of Pediatrics, Washington University School of Medicine, St Louis Children’s Hospital, St Louis, MO, USA

    A Vachharajani

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  1. T E Herman
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  2. M J Siegel
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  3. A Vachharajani
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Correspondence to T E Herman.

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Herman, T., Siegel, M. & Vachharajani, A. Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. J Perinatol 33, 245–247 (2013). https://doi.org/10.1038/jp.2012.155

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