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

2004; Wiley; Volume: 127A; Issue: 3 Linguagem: Inglês

10.1002/ajmg.a.20688

1552-4833

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

Bone Tumor Diagnosis and Treatments

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. © 2004 Wiley‐Liss, Inc.