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Wolf-Hirschhorn Syndrome Workup

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Feb 15, 2015
 

Laboratory Studies

The following studies may be useful in Wolf-Hirschhorn syndrome:

  • Cytogenetic analysis would detect 60% of Wolf-Hirschhorn syndrome.
  • Fluorescence in situ hybridization (FISH)
    • FISH using a WHCR probe detects more than 95% of deletions in Wolf-Hirschhorn syndrome.
    • Molecular cytogenetic studies using FISH allow the diagnosis to be made in patients with very small deletions or cryptic translocations.
    • FISH uses genetic markers that have been precisely localized to the area of interest.
    • The absence of signal from either the maternal or paternal allele for the marker indicates monosomy for that chromosomal region.
    • Commercially, D4S96 or D4Z1 chromosome band 4p16.3–specific probe (Wolf-Hirschhorn region, Vysis, Inc) is available for FISH study.
  • Microarray-based comparative genomic hybridization analysis: This study is able to detect a large deletion region.
  • Immune workup: Patients should be assessed for common variable immunodeficiency, immunoglobulin A (IgA) and immunoglobulin G2 (IgG2) subclass deficiency, IgA deficiency, impaired polysaccharide responsiveness, and normal T-cell immunity.
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Imaging Studies

See the list below:

  • Radiography may reveal delayed bone maturation, microcephaly, hypertelorism, micrognathia, anterior fusion of vertebrae, fused ribs, dislocated hips, proximal radioulnar synostosis, club feet, and split hand/foot abnormality.
  • Echocardiography should be obtained in all patients to evaluate for heart defects.
  • Renal ultrasonography is used to detect renal anomalies.
  • MRI and CT scanning may reveal underlying brain pathology, including agenesis of corpus callosum and ventriculomegaly.
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Other Tests

See the list below:

  • EEG for seizure monitoring
  • Swallowing study for feeding difficulty
  • Comprehensive audiologic and otologic evaluation to rule out possible hearing impairment
  • Ophthalmologic examination
  • Developmental testing and referral to early intervention and appropriate school placement
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Procedures

See the list below:

  • Gastrostomy may be necessary in infancy to protect the airway of patients with major feeding difficulty.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

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A child with Wolf-Hirschhorn syndrome. Note the characteristic dysmorphic facial features, including prominent glabella, hypertelorism, beaked nose, and frontal bossing, collectively described as "Greek warrior helmet" facies.
A fetus with Wolf-Hirschhorn syndrome. Note the presence of "Greek warrior helmet" facies.
The result of a fluorescence in situ hybridization (FISH) study of a patient with Wolf-Hirschhorn syndrome. FISH photograph shows deletion of a locus-specific probe for the Wolf-Hirschhorn critical region (absence of a probe signal at 4p16.3).
G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p).
A girl with Wolf-Hirshhorn syndrome showing characteristic features of the condition.
 
 
 
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