Facilitating diagnosis, prognosis, and management: Distinguishing isolated and syndromic anomalies

Research output: Contribution to journalArticle

Abstract

Birth defects comprise a significant percentage of craniofacial abnormalities, particularly in infants and children. A patient in whom these anomalies represent part of a larger syndrome may have features, such as a congenital heart defect and a urogenital malformation, which complicate pre- and post-operative management. Distinguishing isolated anomalies from syndromic anomalies is important. Appropriate diagnosis, referral, and prognosis is facilitated by examining specific parts of the body. The embryonic face develops coincident with the limbs, so their malformations can often be found concurrently. Two common considerations in dysmorphologic diagnosis are: 1) malformations of midline structures (brain, palate, heart, genitalia) tend to occur together; and 2) an underlying diagnosis may be present in a patient with two major or three minor anomalies. Presented herein are definitions of major and minor anomalies, and some of the syndromes in which they can be found. It is suggested that children with a craniofacial anomaly, isolated or syndromic, should be evaluated by a geneticist, and that patients with two or more major anomalies should have a chromosome analysis performed.

Original languageEnglish (US)
Pages (from-to)208-212
Number of pages5
JournalJournal of Craniofacial Surgery
Volume5
Issue number4
StatePublished - 1994

Fingerprint

Craniofacial Abnormalities
Genitalia
Congenital Heart Defects
Palate
Human Body
Referral and Consultation
Extremities
Chromosomes
Brain

Keywords

  • Anomalies
  • Chromosome
  • Defect
  • Genetic
  • Syndrome

ASJC Scopus subject areas

  • Surgery

Cite this

@article{8ad4931deaf44eb48eda21a3501645e6,
title = "Facilitating diagnosis, prognosis, and management: Distinguishing isolated and syndromic anomalies",
abstract = "Birth defects comprise a significant percentage of craniofacial abnormalities, particularly in infants and children. A patient in whom these anomalies represent part of a larger syndrome may have features, such as a congenital heart defect and a urogenital malformation, which complicate pre- and post-operative management. Distinguishing isolated anomalies from syndromic anomalies is important. Appropriate diagnosis, referral, and prognosis is facilitated by examining specific parts of the body. The embryonic face develops coincident with the limbs, so their malformations can often be found concurrently. Two common considerations in dysmorphologic diagnosis are: 1) malformations of midline structures (brain, palate, heart, genitalia) tend to occur together; and 2) an underlying diagnosis may be present in a patient with two major or three minor anomalies. Presented herein are definitions of major and minor anomalies, and some of the syndromes in which they can be found. It is suggested that children with a craniofacial anomaly, isolated or syndromic, should be evaluated by a geneticist, and that patients with two or more major anomalies should have a chromosome analysis performed.",
keywords = "Anomalies, Chromosome, Defect, Genetic, Syndrome",
author = "A. Scheuerle",
year = "1994",
language = "English (US)",
volume = "5",
pages = "208--212",
journal = "Journal of Craniofacial Surgery",
issn = "1049-2275",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Facilitating diagnosis, prognosis, and management

T2 - Distinguishing isolated and syndromic anomalies

AU - Scheuerle, A.

PY - 1994

Y1 - 1994

N2 - Birth defects comprise a significant percentage of craniofacial abnormalities, particularly in infants and children. A patient in whom these anomalies represent part of a larger syndrome may have features, such as a congenital heart defect and a urogenital malformation, which complicate pre- and post-operative management. Distinguishing isolated anomalies from syndromic anomalies is important. Appropriate diagnosis, referral, and prognosis is facilitated by examining specific parts of the body. The embryonic face develops coincident with the limbs, so their malformations can often be found concurrently. Two common considerations in dysmorphologic diagnosis are: 1) malformations of midline structures (brain, palate, heart, genitalia) tend to occur together; and 2) an underlying diagnosis may be present in a patient with two major or three minor anomalies. Presented herein are definitions of major and minor anomalies, and some of the syndromes in which they can be found. It is suggested that children with a craniofacial anomaly, isolated or syndromic, should be evaluated by a geneticist, and that patients with two or more major anomalies should have a chromosome analysis performed.

AB - Birth defects comprise a significant percentage of craniofacial abnormalities, particularly in infants and children. A patient in whom these anomalies represent part of a larger syndrome may have features, such as a congenital heart defect and a urogenital malformation, which complicate pre- and post-operative management. Distinguishing isolated anomalies from syndromic anomalies is important. Appropriate diagnosis, referral, and prognosis is facilitated by examining specific parts of the body. The embryonic face develops coincident with the limbs, so their malformations can often be found concurrently. Two common considerations in dysmorphologic diagnosis are: 1) malformations of midline structures (brain, palate, heart, genitalia) tend to occur together; and 2) an underlying diagnosis may be present in a patient with two major or three minor anomalies. Presented herein are definitions of major and minor anomalies, and some of the syndromes in which they can be found. It is suggested that children with a craniofacial anomaly, isolated or syndromic, should be evaluated by a geneticist, and that patients with two or more major anomalies should have a chromosome analysis performed.

KW - Anomalies

KW - Chromosome

KW - Defect

KW - Genetic

KW - Syndrome

UR - http://www.scopus.com/inward/record.url?scp=0028113989&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028113989&partnerID=8YFLogxK

M3 - Article

C2 - 7833392

AN - SCOPUS:0028113989

VL - 5

SP - 208

EP - 212

JO - Journal of Craniofacial Surgery

JF - Journal of Craniofacial Surgery

SN - 1049-2275

IS - 4

ER -