Wolf-Hirschhorn Syndrome Clinical Presentation

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 10, 2011
 

History

The following may be observed in patients with Wolf-Hirschhorn syndrome:

Pregnancy history

  • Intrauterine growth retardation
  • Decreased fetal movements
  • Hypotrophic placenta

Developmental history

  • Delayed psychomotor development
  • Difficulty in ambulation, often with ataxic gait
  • Seizures (50%)

Behavior history

  • Stereotypes (holding the hands in front of the face, hand-washing or flapping, patting self on chest, rocking, head-shaking, stretching of legs)
  • Absence of speech
  • Babbling or guttural sounds, occasionally modulated in a communicative way
  • Comprehension limited to simple orders or to a specific context
  • Affect disorder that improves over time
  • Walking with or without support
  • Self-feeding
  • Helps in dressing and undressing self
  • Improved abilities and adaptation to new situations
  • Communicative abilities and verbal comprehension with extension of the gesture repertoire and decreased occurrence of withdrawal and anxiety behaviors
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Physical

Studies of large samples of individuals, including those with submicroscopic deletions and those with a derivative chromosome 4,[7] have led to the recognition of a more complete continuum of the phenotype, pointing out a much wider clinical spectrum than previously thought.[8, 9]

Growth

  • Prenatal onset growth deficiency followed by postnatal growth retardation (short stature)

CNS

  • Developmental delay and mental retardation of varying degree, microcephaly, seizures, congenital hypotonia with muscle hypotrophy particularly of the lower limbs, hypoplasia of cerebellum, cavum or absent septum pellucidum, agenesis of corpus callosum, hypoplasia or absence of olfactory bulbs and tracts, microgyria, migration defects, and hydrocephalus have been reported.
  • A comparison of cognitive-behavioral features of 19 children with Wolf-Hirschhorn syndrome and 26 children with 1 of 3 other subtelomeric deletions.[10] Children with Wolf-Hirschhorn syndrome to be more severely impacted cognitively than children from the other groups. The overall adaptive behavior in children with Wolf-Hirschhorn syndrome is lower compared with children with other subtelomeric deletions. Children with Wolf-Hirschhorn syndrome exhibit strengths in socialization skills comparable to the other groups. The proportion of children with Wolf-Hirschhorn syndrome with autism or autisticlike features is significantly lower than the rates of autism found in the other subtelomeric disorders.

Skull

  • Frontal bossing
  • High frontal hairline
  • Hemangioma over forehead or glabella
  • Scalp defect with or without underlying bony defect

Face

  • Characteristic dysmorphic features including prominent glabella
  • Hypertelorism
  • Broad-beaked nose
  • Frontal bossing, collectively described as "Greek warrior helmet" facies (See the images below.)A child with Wolf-Hirschhorn syndrome. Note the chA 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 prA fetus with Wolf-Hirschhorn syndrome. Note the presence of "Greek warrior helmet" facies.

Eyes

  • Hypertelorism
  • Down-slanting palpebral fissures
  • Epicanthal folds
  • Strabismus
  • Coloboma
  • Proptosis due to hypoplasia of orbital ridges
  • Ectopic pupils
  • Exotropia
  • Ptosis
  • Microphthalmia
  • Megalocornea
  • Sclerocornea
  • Cataracts
  • Hypoplastic anterior chamber and ciliary body of iris
  • Persistence of lenticular membrane
  • Hypoplastic retina with formation of rosettes
  • Cup-shaped optic discs
  • Congenital nystagmus
  • Rieger anomaly

Nose

  • Broad or beaked nose
  • Nasolacrimal duct stenosis or atresia

Mouth

  • Short upper lip
  • Short philtrum
  • Cleft lip or palate
  • Bifid uvula
  • Carplike mouth
  • Micrognathia
  • Retrognathia

Teeth

  • Hypodontia

Ears

  • Low-set ears
  • Large, floppy, or misshapen ears
  • Microtia
  • Preauricular dimples
  • Chronic otitis media with effusion
  • Sensorineural hearing loss

Cardiovascular

Pulmonary

GI

  • Diastasis recti
  • Umbilical or inguinal hernias
  • Accessory spleens
  • Absent gallbladder
  • Diaphragmatic hernia

Genitourinary

  • Hypoplastic kidneys
  • Cystic dysplastic kidneys
  • Unilateral renal agenesis
  • Hydronephrosis
  • Exstrophy of bladder
  • Hypoplastic external genitalia
  • Cryptorchidism and hypospadias in males
  • Hypoplastic müllerian derivatives (ie, agenesis of vagina, cervix, or uterus; hypoplastic uterus; ovarian streaks) in females

Skeletal

  • Long slender fingers with additional flexion creases
  • Long narrow chest
  • Hypoplastic widely spaced nipples
  • Hypoplasia or duplication of thumbs and great toes
  • Talipes equinovarus
  • Hypoplasia of pubic bones
  • Vertebral and rib anomalies
  • Defective calvaria ossification
  • Scoliosis
  • Kyphosis
  • Osteoporosis
  • Delayed bone maturation
  • Sacral dimple

Immune system

  • Infection-prone
  • Immunodeficiency

Dermatoglyphics

  • Hypoplastic dermal ridges
  • Transverse palmar creases (25%)
  • Excess of digital arches
  • t or t'

Fetal phenotype

  • Minor anomalies - Scalp defect, hypertelorism usually with a prominent glabella, pulmonary isomerism, common mesentery, hypospadias, sacral dimple
  • Major anomalies - Intrauterine growth retardation, microcephaly, cleft palate, corpus callosum agenesis, ventricular septal defect, diaphragmatic hernia, renal hypoplasia
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Causes

  • Wolf-Hirschhorn syndrome is caused by a deletion in the terminal band of the short arm of chromosome 4 (band 4p16.3) and is considered a contiguous gene syndrome.[8] The cause in 87% of cases is a de novo interstitial deletion of preferential paternal origin. The remaining 13% are due to unbalanced product of a parental chromosomal rearrangement, usually of a reciprocal translocation. The number of translocations may be higher because fluorescence in situ hybridization (FISH) has demonstrated submicroscopic translocations in cytogenetically normal parents and affected offspring. See the image below. The result of a fluorescence in situ hybridizationThe 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).
  • A new mechanism of familial recurrence of a microdeletion syndrome has been described. Faravelli et al reported a case of familial recurrence of Wolf-Hirschhorn syndrome involving a previously unreported expansion of the deletion during the mother-to-son transmission.[11] The report described a mother with partial Wolf-Hirschhorn syndrome, facial "gestalt,” borderline mental delay, a few episodes of seizures as a child, normal weight and head circumference, height at the lower limit of the reference range, and a smaller 4p deletion that spanned the 1.5-Mb region from locus D4S96 to the telomere.
  • Molecular analysis of various patients localized the critical region to the approximate 450-700 kb between D4S168/FGFR3 and D4S166/D4S43. The chromosome band 4p16.3 region also contains a gene called DFNA6, which encodes for autosomal dominant nonsyndromic hereditary hearing loss.
  • Using genotype-phenotype correlation analysis in 8 informative patients, Zollino et al (2003) characterized the following minimal diagnostic criteria for this condition: presence of typical facial appearance, mental retardation, growth delay, congenital hypotonia, and seizures.[12] They also mapped this basic phenotype outside the currently defined Wolf-Hirschhorn syndrome critical region (WHSCR) and designated a new critical region, WHSCR-2.
  • LETM1 has been proposed as a candidate gene for the neuromuscular aspects of the Wolf-Hirschhorn syndrome phenotype. Its position immediately distal to the critical region means that it is deleted in almost all affected individuals. In yeast, it has been shown to be involved in mitochondrial potassium homeostasis.[13, 14]
  • A patient with developmental delay and several facial characteristics reminiscent of Wolf–Hirschhorn syndrome who carries a terminal 4p16.3 deletion of 1.691 Mb minimally and 1.698 Mb maximally was reported.[15] This deletion contains the FGFRL1 gene but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf–Hirshhorn syndrome in patients with 4p16.3 deletion.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, 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, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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 American Society of Human Genetics

Disclosure: Nothing to disclose.

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.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl. 1961;4:14.

  2. Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479-82. [Medline].

  3. Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965;1(5):397-413. [Medline].

  4. Zollino M, Murdolo M, Marangi G, et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. Nov 15 2008;148C(4):257-69. [Medline].

  5. Lurie IW, Lazjuk GI, Ussova YI, et al. The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet. Jun 1980;17(6):375-84. [Medline].

  6. Maas NM, Van Buggenhout G, Hannes F, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet. Feb 2008;45(2):71-80. [Medline].

  7. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. Feb 2008;121(2):404-10. [Medline].

  8. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48:75-113. [Medline].

  9. South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. Jan 2008;16(1):45-52. [Medline]. [Full Text].

  10. Fisch GS, Grossfeld P, Falk R, et al. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet. Nov 15 2010;154C(4):417-26. [Medline].

  11. Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet A. Jun 1 2007;143(11):1169-73. [Medline].

  12. Zollino M, Di Stefano C, Zampino G, et al. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet. 2000;94 (3):254-261. [Medline].

  13. Nowikovsky K, Froschauer EM, Zsurka G, et al. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome. J Biol Chem. Jul 16 2004;279(29):30307-15. [Medline]. [Full Text].

  14. Schlickum S, Moghekar A, Simpson JC, et al. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Genomics. Feb 2004;83(2):254-61. [Medline].

  15. Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet. Jan 2009;17(1):129-32. [Medline].

  16. Knight SJ, Lese CM, Precht KS, et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet. Aug 2000;67(2):320-32. [Medline].

  17. Schrock E, du Manoir S, Veldman T, et al. Multicolor spectral karyotyping of human chromosomes. Science. Jul 26 1996;273(5274):494-7. [Medline].

  18. Speicher MR, Gwyn Ballard S, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet. Apr 1996;12(4):368-75. [Medline].

  19. Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr. Dec 2004;145(6):840-2. [Medline].

  20. Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet. Sep 2004;41(9):691-8. [Medline]. [Full Text].

  21. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline]. [Full Text].

  22. Altherr MR, Wright TJ, Denison K, et al. Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. Am J Med Genet. Jul 11 1997;71(1):47-53. [Medline].

  23. Balci S, Engiz O, Aktas D, et al. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A. Mar 15 2006;140(6):628-32. [Medline].

  24. Battaglia A. Wolf-Hirschhorn (4p-) syndrome. In: Cassidy SB, Allanson JE. Management of genetic syndromes. Hoboken, NJ: John Wiley & Sons, Inc.; 2005:667-676.

  25. Battaglia A, Carey JC. Health supervision and anticipatory guidance of individuals with Wolf- Hirschhorn syndrome. Am J Med Genet. Jun 25 1999;89(2):111-5. [Medline].

  26. Battaglia A, Carey JC. Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev. Aug 2005;27(5):362-4. [Medline].

  27. Battaglia A, Carey JC, Cederholm P, et al. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics. Apr 1999;103(4 Pt 1):830-6. [Medline]. [Full Text].

  28. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn syndrome. GeneReview. September, 2006.

  29. Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. Nov 15 2008;148C(4):246-51. [Medline].

  30. Boog G, Le Vaillant C, Collet M, et al. Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome. Fetal Diagn Ther. Sep-Oct 2004;19(5):421-30. [Medline].

  31. Casaccia G, Mobili L, Braguglia A, Santoro F, Bagolan P. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol. Mar 2006;76(3):210-3. [Medline].

  32. Chao A, Lee YS, Chao AS, Wang TH, Chang SD. Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. Birth Defects Res A Clin Mol Teratol. Oct 2006;76(10):739-43. [Medline].

  33. Chen CP, Hsu CY, Lee CC, et al. Prenatal diagnosis of de novo pure partial monosomy 4p (4p15.1-->pter) in a growth-restricted fetus with a Greek warrior helmet face and unilateral facial cleft on three-dimensional ultrasound. Prenat Diagn. Nov 2004;24(11):934-6. [Medline].

  34. Chen H. Wolf-Hirschhorn syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:1047-1055.

  35. Dallapiccola B, Mandich P, Bellone E, et al. Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. Am J Med Genet. Nov 1 1993;47(6):921-4. [Medline].

  36. Estabrooks LL, Breg WR, Hayden MR, et al. Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". Am J Med Genet. Feb 13 1995;55(4):453-8. [Medline].

  37. Estabrooks LL, Rao KW, Driscoll DA, et al. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet. Jul 17 1995;57(4):581-6. [Medline].

  38. Fang YY, Bain S, Haan EA, et al. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet. Sep 5 1997;71(4):453-7. [Medline].

  39. Gonzalez CH, Capelozzi VL, Wajntal A. Pathologic findings in the Wolf-Hirschhorn (4p-) syndrome. Am J Med Genet. 1981;9(3):183-7. [Medline].

  40. Gottfried M, Lavine L, Roessmann U. Neuropathological findings in Wolf-Hirschhorn (4p-) syndrome. Acta Neuropathol. 1981;55(2):163-5. [Medline].

  41. Hanley-Lopez J, Estabrooks LL, Stiehm R. Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr. Jul 1998;133(1):141-3. [Medline].

  42. Johnson VP, Mulder RD, Hosen R. The Wolf-Hirschhorn (4p-) syndrome. Clin Genet. Aug 1976;10(2NA-NA-760903-760909):104-12. [Medline].

  43. Johnston NJ, Franklin DL. Dental findings of a child with Wolf-Hirschhorn syndrome. Int J Paediatr Dent. Mar 2006;16(2):139-42. [Medline].

  44. Lazjuk GI, Lurie IW, Ostrowskaja TI, et al. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy. Clin Genet. Jul 1980;18(1):6-12. [Medline].

  45. Lesperance MM, Grundfast KM, Rosenbaum KN. Otologic manifestations of Wolf-Hirschhorn syndrome. Arch Otolaryngol Head Neck Surg. Feb 1998;124(2):193-6. [Medline].

  46. Lesperance MM, Hall JW 3rd, Bess FH, et al. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet. Oct 1995;4(10):1967-72. [Medline].

  47. Levaillant JM, Touboul C, Sinico M, et al. Prenatal forehead edema in 4p- deletion: the "Greek warrior helmet" profile revisted. Prenat Diagn. Dec 2005;25(12):1150-1155. [Medline].

  48. Magill HL, Shackelford GD, McAlister WH, Graviss ER. 4p- (Wolf-Hirschhorn) syndrome. AJR Am J Roentgenol. Aug 1980;135(2):283-8. [Medline].

  49. Mathai S, Ganguly BB. Wolf-Hirschhorn(4p-) syndrome. Indian Pediatr. Jul 2003;40(7):681. [Medline].

  50. Meizner I. The "tulip sign": a sonographic clue for in utero diagnosis of severe hypospadias. Ultrasound Obstet Gynecol. Mar 2002;19(3):317-321. [Medline].

  51. Ogle R, Sillence DO, Merrick A, et al. The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. Am J Med Genet. Oct 16 1996;65(2):124-7. [Medline].

  52. Opitz JM. Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome [editorial]. Am J Med Genet. Feb 13 1995;55(4):459-61. [Medline].

  53. Righini A, Ciosci R, Selicorni A, et al. Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome. Neuropediatrics. Feb 2007;38(1):25-8. [Medline].

  54. Rodriguez L, Zollino M, Climent S, et al. The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description ofa second case. Am J Med Genet A. Jul 15 2005;136(2):175-8. [Medline].

  55. Sase M, Hasegawa K, Honda R, et al. Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. Am J Perinatol. Feb 2005;22(2):99-102. [Medline].

  56. Schaefer BG, Kleimola CN, Stenson C. Wolf-Hirschhorn Syndrome (Deletion 4p): A Guidebook for Families. SOFT 18, 13, and RD and Meyer Rehabilitation Institute; 1996.

  57. Sepulveda W. Prenatal 3-dimensional sonographic depiction of the Wolf-Hirschhorn phenotype: the "Greek warrior helmet" and "tulip" signs. J Ultrasound Med. Mar 2007;26(3):407-10. [Medline].

  58. Sgro V, Riva E, Canevini MP, et al. 4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern. Epilepsia. Dec 1995;36(12):1206-14. [Medline].

  59. Tachdjian G, Fondacci C, Tapia S, et al. The Wolf-Hirschhorn syndrome in fetuses. Clin Genet. Dec 1992;42(6):281-7. [Medline].

  60. Wright TJ, Clemens M, Quarrell O, Altherr MR. Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. Am J Med Genet. Feb 3 1998;75(4):345-50. [Medline].

  61. Wright TJ, Costa JL, Naranjo C, Francis-West P, Altherr MR. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region. Genomics. Jul 15 1999;59(2):203-12. [Medline].

  62. Wright TJ, Ricke DO, Denison K, et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet. Feb 1997;6(2):317-24. [Medline]. [Full Text].

  63. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. Mar 2003;72(3):590-7. [Medline]. [Full Text].

 
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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 a distal part of the short arm of a chromosome 4 [del(4)(p15.2)].
 
 
 
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