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Related Experiment Videos

Familial hydrocephalus with a low-insertion umbilicus

S E Palmer1, R A Pagon

  • 1Department of Pediatrics, University of Washington School of Medicine, Seattle.

Clinical Dysmorphology
|October 1, 1993
PubMed
Summary

This study describes two brothers with a rare combination of hydrocephalus and a low-umbilical insertion. The findings suggest a potential genetic disorder, possibly inherited in an autosomal recessive or X-linked recessive pattern.

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Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Developmental Biology

Background:

  • Hydrocephalus, a condition characterized by excess cerebrospinal fluid in the brain, can have various causes.
  • Umbilical anomalies, such as a low-insertion umbilicus, are less commonly documented and their associated syndromes are not well-established.

Observation:

  • Two brothers presented with a unique constellation of symptoms including hydrocephalus of the lateral ventricles and a low-insertion umbilicus.
  • Associated features included unusual facial features, inguinal hernias, and in one brother, unilateral cryptorchidism.
  • Cardiac (tetralogy of Fallot) and renal (enlarged echogenic kidneys with vesicoureteral reflux) anomalies were noted in one or both siblings.

Findings:

  • The familial occurrence of hydrocephalus and a low-set umbilicus, without other typical syndromic features, is not found in existing literature.

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  • The specific combination of anomalies in these brothers suggests a potential novel monogenic disorder.
  • The inheritance pattern is hypothesized to be either autosomal recessive or X-linked recessive, pending further genetic investigation.

    • Implications:

    • This case highlights a potentially new genetic syndrome linking hydrocephalus and umbilical anomalies.
    • Understanding the genetic basis can aid in diagnosis and genetic counseling for families with similar presentations.
    • Further research into the embryological origins and genetic underpinnings of this association is warranted.