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

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 repo...

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Bibliographic Details
Published in:American journal of medical genetics 2004-06, Vol.127A (3), p.288-290
Main Authors: Maheshwari, Akhil, Calhoun, Darlene A., Lacson, Atilano, Pereda, Lourdes, Nelson, Robert M., Saste, Monisha D., Kousseff, Boris, Gieron‐Korthals, Maria
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - pathology
Biological and medical sciences
Carey–Fineman–Ziter syndrome
congenital myopathy
General aspects. Genetic counseling
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Möbius sequence
Pons - pathology
pontine hypoplasia
Syndrome
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20688