Craniosynostosis is a common malformation occurring in 3-5 per 10,000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a dif...

A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those pre...

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.

Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformation...

OBJECTIVES We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing. METHODS We undertook targeted molecular genetic and cytogenetic testing for 326 children who required surgery because of craniosynostosis, were born in 19...

Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci.

Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother whose previous child had Crouzon Syndrome due to an apparently de novo mutation...

Craniosynostosis is the premature fusion of the bones of the calvaria resulting in abnormal skull shapes that can be associated with increased intracranial pressure. While craniosynostoses of multiple different types can be easily diagnosed, quantifying the severity of the abnormality is much more subjective and not a standard part of clinical practice. For this purpose we have developed a seve...

Craniosynostosis is a serious and common pediatric disease caused by the premature fusion of the sutures of the skull. Early fusion results in severe deformities in skull shape due to the restriction of bone growth perpendicular to the fused suture and compensatory growth in unfused skull plates. Calvarial (skull) abnormalities are frequently associated with severe impaired central nervous syst...

INTRODUCTION Craniosynostosis can affect the skull in various ways. The most common forms are abnormal skull shape and beaten copper pattern, while Lückenschädel (or lacunar skull) is one of the least common forms. CASE PRESENTATION We report the case of a 3-month-old Caucasian boy with multiple suture craniosynostosis and with acquired craniomeningocele presenting as a bulging mass in the la...