Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome

Akhil Maheshwari, Darlene A. Calhoun, Atilano Lacson, Lourdes Pereda, Robert M. Nelson, Monisha D. Saste, Boris Kousseff, Maria Gieron-Korthals

Research output: Contribution to journalArticle

Abstract

We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, Möbius sequence, developmental delay, myopathy, hydronephrosis, and bilateral clubfeet. These features are consistent with Carey-Fineman-Ziter (CFZ) syndrome (MIM 254940), which has been previously reported in six children (including two sibling pairs). Cranial magnetic resonance imaging (MRI) revealed an unusually small pons, a finding not previously described in CFZ syndrome.

Original languageEnglish (US)
Pages (from-to)288-290
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume127
Issue number3
StatePublished - Jun 1 2004
Externally publishedYes

Keywords

  • Carey-Fineman-Ziter syndrome
  • Congenital myopathy
  • Möbius sequence
  • Pontine hypoplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Maheshwari, A., Calhoun, D. A., Lacson, A., Pereda, L., Nelson, R. M., Saste, M. D., Kousseff, B., & Gieron-Korthals, M. (2004). Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome. American Journal of Medical Genetics, 127(3), 288-290.