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 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.
Maheshwari
Akhil
A
University of South Florida College of Medicine, Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Tampa, Florida, USA.
Calhoun
Darlene A
DA
Lacson
Atilano
A
Pereda
Lourdes
L
Nelson
Robert M
RM
Saste
Monisha D
MD
Kousseff
Boris
B
Gieron-Korthals
Maria
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011149:Pons / Q000473:pathology*; D013577:Syndrome