Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain

Kimberly M. Macferran, Robert F. Buchmann, Raghu Ramakrishnaiah, May L. Griebel, Warren G. Sanger, Anirudh Saronwala, G. Bradley Schaefer

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome-although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.

Original languageEnglish (US)
Pages (from-to)69-74
Number of pages6
JournalSeminars in Pediatric Neurology
Volume17
Issue number1
DOIs
StatePublished - Mar 2010

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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    Macferran, K. M., Buchmann, R. F., Ramakrishnaiah, R., Griebel, M. L., Sanger, W. G., Saronwala, A., & Schaefer, G. B. (2010). Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain. Seminars in Pediatric Neurology, 17(1), 69-74. https://doi.org/10.1016/j.spen.2010.02.014