Literature DB >> 26042903

Evaluation and diagnosis of the dysmorphic infant.

Kelly L Jones1, Margaret P Adam2.   

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.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

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

Mesh：

Year:  2015        PMID： 26042903      PMCID： PMC4707958          DOI： 10.1016/j.clp.2015.02.002

Source DB:  PubMed          Journal:  Clin Perinatol        ISSN： 0095-5108            Impact factor:   3.430


  36 in total

Review 1.  Turner's syndrome.

Authors:  Virginia P Sybert; Elizabeth McCauley
Journal:  N Engl J Med       Date:  2004-09-16       Impact factor: 91.245

Review 2.  Genetics of cleft lip and/or cleft palate: association with other common anomalies.

Authors:  Núria Setó-Salvia; Philip Stanier
Journal:  Eur J Med Genet       Date:  2014-04-21       Impact factor: 2.708

3.  Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

Authors:  M J Pettenati; J L Haines; R R Higgins; R S Wappner; C G Palmer; D D Weaver
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

4.  Polydactyly: a genetic study in South America.

Authors:  E Castilla; J Paz; O Mutchinick; E Muñoz; E Giorgiutti; Z Gelman
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

5.  The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Authors:  L Nanni; J E Ming; M Bocian; K Steinhaus; D W Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; E Roessler; M Muenke
Journal:  Hum Mol Genet       Date:  1999-12       Impact factor: 6.150

6.  Syndromic ear anomalies and renal ultrasounds.

Authors:  R Y Wang; D L Earl; R O Ruder; J M Graham
Journal:  Pediatrics       Date:  2001-08       Impact factor: 7.124

Review 7.  Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.

Authors:  K P Battaile; R D Steiner
Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

Review 8.  Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

Authors:  Erwin Brosens; Mirjam Ploeg; Yolande van Bever; Anna E Koopmans; Hanneke IJsselstijn; Robbert J Rottier; Rene Wijnen; Dick Tibboel; Annelies de Klein
Journal:  Eur J Med Genet       Date:  2014-06-13       Impact factor: 2.708

9.  Pre-auricular tags and pits in the newborn: the role of renal ultrasonography.

Authors:  Amir Kugelman; Aurora Tubi; David Bader; Miri Chemo; Hussain Dabbah
Journal:  J Pediatr       Date:  2002-09       Impact factor: 4.406

10.  Infants with congenital anomalies admitted to neonatal intensive care units.

Authors:  Anne R Synnes; Margaret Berry; Huw Jones; Margaret Pendray; Shawn Stewart; Shoo K Lee
Journal:  Am J Perinatol       Date:  2004-05       Impact factor: 1.862
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  6 in total

Review 1.  Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.

Authors:  Raffaele Falsaperla; Valentina Giacchi; Maria Giovanna Aguglia; Janette Mailo; Maria Grazia Longo; Federica Natacci; Martino Ruggieri
Journal:  J Pediatr Genet       Date:  2021-07-10

2.  Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature.

Authors:  Benjamin M Helm; Benjamin J Landis; Stephanie M Ware
Journal:  Genes (Basel)       Date:  2021-08-14       Impact factor: 4.141

3.  Widespread Genotype-Phenotype Correlations in Intellectual Disability.

Authors:  Emily L Casanova; Zachary Gerstner; Julia L Sharp; Manuel F Casanova; Frank Alex Feltus
Journal:  Front Psychiatry       Date:  2018-10-29       Impact factor: 4.157

4.  Pregnancy outcomes following maternal treatment with rituximab prior to or during pregnancy: a case series.

Authors:  Kirstie Perrotta; Elizabeth Kiernan; Gretchen Bandoli; Rachel Manaster; Christina Chambers
Journal:  Rheumatol Adv Pract       Date:  2021-01-04

Review 5.  Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Authors:  Soyoung Bae; Aram Yang; Jinsup Kim; Hyun Ju Lee; Hyun Kyung Park
Journal:  BMC Med Genomics       Date:  2021-12-20       Impact factor: 3.063

6.  Depressor Anguli Oris in IVF Twins.

Authors:  Abdullah Baris Akcan; Mediha Akcan; Servet Ozkiraz
Journal:  Iran J Pediatr       Date:  2016-07-02       Impact factor: 0.364
  6 in total

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