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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Veröffentlicht in:	American journal of medical genetics 2004-06, Vol.127A (3), p.288-290
Hauptverfasser:	Maheshwari, Akhil, Calhoun, Darlene A., Lacson, Atilano, Pereda, Lourdes, Nelson, Robert M., Saste, Monisha D., Kousseff, Boris, Gieron‐Korthals, Maria
Format:	Artikel
Sprache:	eng
Schlagworte:	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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Beschreibung
Zusammenfassung:	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