title: Recognizable syndromes in the newborn period.
abstract: Making the diagnosis of genetic syndromes in the neonatal period can be challenging, as limited information concerning growth and development is available. The pattern of dysmorphic features and malformations is, therefore, correspondingly more important in syndrome recognition. The authors provide specific examples of the differences in the presentation for selected syndromes between the newborn period and later childhood. The purpose is to describe the variation in presentation that can occur with chronologic age and to aid in the early diagnosis of these conditions.
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Francisco, 1550 4th Street, Room RH384D, San Francisco, CA 94143-2711, USA. Electronic address: slavotia@ucsf.edu.
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Francisco, 1550 4th Street, Room RH384D, San Francisco, CA 94143-2711, USA.
authors.forename: Marwan
authors.initials: M
authors.lastname: Ali
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome
keywords: Birth defects; Dysmorphology; Newborn period; Syndrome recognition