title: Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome.
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.
authors.affiliation: University of South Florida College of Medicine, Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Tampa, Florida, USA.
authors.forename: Akhil
authors.initials: A
authors.lastname: Maheshwari
authors.forename: Darlene A
authors.initials: DA
authors.lastname: Calhoun
authors.forename: Atilano
authors.initials: A
authors.lastname: Lacson
authors.forename: Lourdes
authors.initials: L
authors.lastname: Pereda
authors.forename: Robert M
authors.initials: RM
authors.lastname: Nelson
authors.forename: Monisha D
authors.initials: MD
authors.lastname: Saste
authors.forename: Boris
authors.initials: B
authors.lastname: Kousseff
authors.forename: Maria
authors.initials: M
authors.lastname: Gieron-Korthals
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011149:Pons / Q000473:pathology*; D013577:Syndrome