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

doi:10.1002/ajmg.a.20688

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 journal › Article › peer-review

6 Scopus citations

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 language	English (US)
Pages (from-to)	288-290
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	127
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.20688
State	Published - Jun 2004
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.20688

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title = "Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome",

abstract = "We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, M{\"o}bius 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.",

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year = "2004",

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doi = "10.1002/ajmg.a.20688",

language = "English (US)",

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T1 - Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome

AU - Maheshwari, Akhil

AU - Calhoun, Darlene A.

AU - Lacson, Atilano

AU - Pereda, Lourdes

AU - Nelson, Robert M.

AU - Saste, Monisha D.

AU - Kousseff, Boris

AU - Gieron-Korthals, Maria

PY - 2004/6

Y1 - 2004/6

N2 - 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.

AB - 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.

KW - Carey-Fineman-Ziter syndrome

KW - Congenital myopathy

KW - Möbius sequence

KW - Pontine hypoplasia

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

Abstract

Keywords

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