PURPOSE To characterize conjugate eye movements in Crouzon syndrome (CS) patients with and without strabismus. METHODS Smooth pursuit, saccades, horizontal optokinetic nystagmus (OKN), and horizontal vestibulo-ocular reflex (VOR) were recorded using binocular video-oculography (VOG) in 10 children with CS (5 orthotropic, 5 strabismic) and 12 age-matched controls. Hess-Lancaster plots were gen...

The aim of this study was to report on a single center’s experience with spring-assisted cranial vault expansion (SAE) in patients Crouzon syndrome and sagittal suture synostosis. Strip craniotomy SAE has resulted successful outcomes low complication revision rates isolated scaphocephaly. However, recent suggests that synostosis (SS) who undergo are less favorable compared the those frontobipar...

The craniosynostoses, the premature closure of the cranial sutures, are a common heterogeneous group of disorders, affecting about 1 in 2000 children at birth. About 20% have a distinct syndrome defined on clinical and family grounds. The delineation of these syndromes has become more precise with molecular analysis. Mutations in the fibroblast growth factor receptor 1, 2, 3 loci have been iden...

BACKGROUND Acanthosis nigricans is a feature of several syndromes caused by activating mutations of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome). OBSERVATIONS We describe a healthy 4-year-old African American girl...

We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The results from conventional cytogenetic analysis showed a structurally abnormal chromosome replacing one normal chromosome 18, but only by applying mo...

Synostosis or osseous union of any 2 adjacent bones can involve any part of the body. Synostosis between radius and ulna can take two forms, congenital and post Synostosis is a very rare congenital anomaly and most cases a post-traumatic, bilateral in 60% and more common in males. It is often part of syndromes such as Crouzon, Apert's and Poland's,4p Bixler syndrome, Genito multiple osteochondr...