Evaluation and diagnosis of the dysmorphic infant

Kelly L Jones; Margaret P Adam

doi:10.1016/j.clp.2015.02.002

Evaluation and diagnosis of the dysmorphic infant

Clin Perinatol. 2015 Jun;42(2):243-61, vii-viii. doi: 10.1016/j.clp.2015.02.002.

Authors

Kelly L Jones¹, Margaret P Adam²

Affiliations

¹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way Northeast, OC.9.850, Seattle, WA 98105, USA.
² 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.

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.

Keywords: Aplasia cutis congenita; Asymmetric crying facies; Cleft lip with or without cleft palate; Congenital heart defects; Holoprosencephaly; Polydactyly; Preauricular tags; Ventral wall defects.

Publication types

Review

MeSH terms

Body Dysmorphic Disorders / diagnosis*
Congenital Abnormalities / diagnosis*
Diagnosis, Differential
Genetic Testing / methods*
Humans
Infant, Newborn

Grants and funding

T32 GM007454/GM/NIGMS NIH HHS/United States