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 journalArticlepeer-review

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
DOIs
StatePublished - Jun 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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