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Pontine hypoplasia in Carey–Fineman–Ziter (CFZ) syndrome
Author(s) -
Maheshwari Akhil,
Calhoun Darlene A.,
Lacson Atilano,
Pereda Lourdes,
Nelson Robert M.,
Saste Monisha D.,
Kousseff Boris,
GieronKorthals Maria
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20688
Subject(s) - pons , hypoplasia , magnetic resonance imaging , sibling , medicine , anatomy , psychology , radiology , developmental psychology
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.