| Literature DB >> 15150780 |
Akhil Maheshwari1, Darlene A Calhoun, Atilano Lacson, Lourdes Pereda, Robert M Nelson, Monisha D Saste, Boris Kousseff, Maria Gieron-Korthals.
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. Copyright 2004 Wiley-Liss, Inc.Entities:
Mesh：
Year: 2004 PMID： 15150780 DOI： 10.1002/ajmg.a.20688
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802