title: Evaluation and diagnosis of the dysmorphic infant.
abstract: Neonatologists have a unique opportunity to be the first to identify abnormalities in a neonate. In this review, multiple anomalies and physical features are discussed along with the potential associated genetic syndromes. The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and polydactyly.
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way Northeast, OC.9.850, Seattle, WA 98105, USA.
authors.forename: Kelly L
authors.initials: KL
authors.lastname: Jones
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way Northeast, OC.9.850, Seattle, WA 98105, USA. Electronic address: margaret.adam@seattlechildrens.org.
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
mesh_terms: D057215:Body Dysmorphic Disorders / Q000175:diagnosis*; D000013:Congenital Abnormalities / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn
keywords: Aplasia cutis congenita; Asymmetric crying facies; Cleft lip with or without cleft palate; Congenital heart defects; Holoprosencephaly; Polydactyly; Preauricular tags; Ventral wall defects