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Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

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Peters Plus Syndrome

Synonym: Peters-Plus Syndrome

, MD, PhD, , PhD, and , MD, PhD.

Author Information
, MD, PhD
Clinical Geneticist, Department of Clinical Genetics
Leiden University Medical Center
Leiden, The Netherlands
, PhD
Molecular Geneticist, Department of Clinical Genetics
Leiden University Medical Center
Leiden, The Netherlands
, MD, PhD
Department of Pediatrics
Academic Medical Center
Amsterdam, The Netherlands

Initial Posting: ; Last Update: January 23, 2014.

Summary

Disease characteristics. Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common.

Developmental delay is observed in about 80% of children; while some adults have normal cognitive function, intellectual disability can range from mild to severe. Cleft lip is present in 45% and cleft palate in 33%.

Diagnosis/testing. Diagnosis is based on clinical findings and molecular genetic testing of B3GALTL, the only gene in which mutations are known to cause Peters plus syndrome. Most affected individuals tested to date are homozygous for a common splice-site mutation in intron 8 (c.660+1G>A).

Management. Treatment of manifestations: Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification prior to age three to six months to prevent amblyopia; consideration of simple separation of iridocorneal adhesions in mild cases; management of amblyopia by a pediatric ophthalmologist; surgical/medical intervention for glaucoma as needed; developmental/educational interventions as needed.

Surveillance: Assessment by a pediatric ophthalmologist every three months or as indicated to monitor for glaucoma and amblyopia; regular developmental assessments.

Agents/circumstances to avoid: Agents that increase risk of glaucoma (e.g., corticosteroids).

Genetic counseling. Peters plus syndrome is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and thus carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. There is an increased chance for miscarriages and second- and third-trimester fetal loss of affected fetuses. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.

Diagnosis

Clinical Diagnosis

Formal diagnostic criteria for Peters plus syndrome have not been proposed. Peters plus syndrome should be suspected in individuals who have the following:

  • Anterior chamber anomalies of the eye
  • Short limbs with broad distal extremities
  • Characteristic facial features, including an exaggerated Cupid’s bow of the upper lip, short palpebral fissures, and ear anomalies.
  • Cleft lip/palate
  • Variable developmental delay/intellectual disability

Molecular Genetic Testing

Gene. B3GALTL is the only gene in which mutations are known to cause Peters plus syndrome.

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in Peters Plus Syndrome

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
B3GALTLSequence analysis Sequence variants 4, 527% (9/26) 6
100% (20/20) 7
Deletion/duplication analysis 8Partial, whole, and contiguous gene deletions 2/20 7, 9

1. See Table A. Genes and Databases for chromosome locus and protein name.

2. See Molecular Genetics for information on allelic variants.

3. The ability of the test method used to detect a mutation that is present in the indicated gene

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice-site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5. Most affected individuals tested to date are homozygous for a splice-site mutation in intron 8 (c.660+1G>A) [Lesnik Oberstein et al 2006]. However, several other loss-of-function mutations have been identified, including missense mutations located in the putative catalytic domain of the enzyme.

6. As identified by the Laboratory of Diagnostic Genome Analysis, Leiden, The Netherlands. Note: This is a clinically heterogeneous group.

7. As identified by Lesnik Oberstein et al [2006]. This cohort is clinically well described.

8. Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted chromosomal microarray analysis (gene/segment-specific) may be used. A full chromosomal microarray analysis that detects deletions/duplications across the genome may also include this gene/segment.

9. Lesnik Oberstein et al [2006] described two brothers with a ~1.5-Mb contiguous gene deletion on their maternal allele, including B3GALTL. The proximal deletion breakpoint is between exons 7 and 8 of B3GALTL; the distal breakpoint is between exons 13 and 14 of BRCA2. Haldeman-Englert et al [2009] also reported a large deletion including the whole B3GALTL gene. The paternal allele harbored a pathogenic point mutation. Within the Laboratory of Diagnostic Genome Analysis, Leiden, The Netherlands, a heterozygous deletion of only exon 7 was identified; the other allele harbored the common intron 8 splice-site mutation [Author, personal communication].

When a mutation is found in homozygous form, carrier testing of the parents is advised to exclude the presence of a deleted allele, as deletions have been described [Lesnik Oberstein et al 2006].

Testing Strategy

To confirm/establish the diagnosis in a proband requires identification of two disease-causing alleles by molecular genetic testing.

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family. Partners of mutation carriers can be tested to determine their carrier status, although in the absence of consanguinity, there is a very small chance of the partner being a carrier, as the carrier frequency in the general population is likely very low.

Note: Carriers are heterozygotes for an autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutations in the family.

Clinical Description

Natural History

Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. Unless otherwise stated, the following description of clinical findings is based on the reports of Maillette de Buy Wenniger-Prick & Hennekam [2002] and Lesnik Oberstein et al [2006].

Eyes. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Peters' anomaly may be classified as type I, a mild form, or type II, a more severe form associated with lens abnormalities including cataracts, congenital glaucoma, and a poorer visual prognosis [Yang et al 2004, Zaidman et al 2007]. The eye involvement is usually bilateral.

Cataracts and glaucoma can also develop later in life.

Other, often unspecified anterior chamber defects have been reported, such as mild mesenchymal dysgenesis [Hennekam et al 1993]. Less expressed symptoms have included iris coloboma. Variation in ocular symptoms may be extensive within a single family. Minor anterior chamber anomalies may not be associated with visual impairment.

Growth. Growth deficiency with rhizomelic limb shortening is invariably present. Growth restriction begins prenatally, but birth length is not always below the third percentile.

Growth hormone deficiency with good response to growth hormone replacement therapy has been reported in some children [Maillette de Buy Wenniger-Prick & Hennekam 2002, Lee & Lee 2004].

Adult height range is 128-151 cm in females and 141-155 cm in males.

Development. Developmental delay is observed in 78%-83% of children. While some adults appear to have normal cognitive function, intellectual disability in adults can range from mild to severe. Several affected individuals have been diagnosed with classic autism.

A behavioral phenotype has not been well delineated thus far.

Facial features. Typical facial features include a prominent forehead, short palpebral fissures, a long philtrum, and an exaggerated Cupid's bow of the vermillion of the upper lip. The facial phenotype does not appear to evolve significantly over time.

Cleft lip is present in 45% of cases and cleft palate in 33%.

Ear anomalies, including preauricular pits, are seen in more than one third of affected individuals. A broad neck occurs in approximately 75% of individuals.

Associated findings

  • Congenital heart defects (≤33% of individuals), including atrial septal defect, ventricular septal defect, subvalvular aortic stenosis, pulmonary stenosis, and bicuspid pulmonary valve
  • Genitourinary anomalies (10%-19%) including hydronephrosis, renal and ureteral duplication, renal hypoplasia with oligomeganephroma, multicystic dysplastic kidney [Boog et al 2005], and glomerulocystic kidneys
  • Structural brain malformations including:
    • Agenesis of the corpus callosum
    • Cerebellar hypoplasia with microcephaly in two children suspected of having Peters plus syndrome. One also had hypoplasia of the corpus callosum.
  • Congenital hypothyroidism, reported in two children with features suggestive of Peters plus syndrome and subsequently described in another affected individual [Kosaki et al 2006]
  • Conductive hearing loss, variably present in association with cleft palate but not otherwise a major feature

Prenatal complications. The clinical spectrum appears to include nonviable conceptuses. Several authors have observed an increased rate of miscarriage and stillbirth among mothers of affected children [van Schooneveld et al 1984, Hennekam et al 1993, Thompson et al 1993]. Published prenatal data suggest that 37% of couples with a child with Peters plus syndrome have recurrent (≥2) miscarriages and/or stillbirths.

Polyhydramnios occurred in 18.6% of pregnancies of affected children.

Mortality. Death in early infancy from cardiac failure or undetermined causes has been reported [de Almeida et al 1991, Frydman et al 1991, Lacombe et al 1994].

Genotype-Phenotype Correlations

No genotype-phenotype correlation has yet been demonstrated.

Nomenclature

Alternate terms for Peters plus syndrome have included Krause-Kivlin syndrome and Krause-van Schooneveld-Kivlin syndrome.

  • Krause et al [1969] first described a single individual with the association of Peters' anomaly, disproportionate short stature, and intellectual disability.
  • van Schooneveld et al [1984] reported 11 individuals with these features and first proposed the term "Peters'-plus syndrome."
  • Kivlin et al [1986] described two additional patients, referencing Krause's initial patient.

For some time, the Krause-Kivlin syndrome and Peters plus syndrome were thought to be separate entities, despite the observation by several authors of striking similarities among the persons reported [Frydman et al 1991, de Almeida et al 1991]. Following the extensive review of the literature and proposal of Thompson et al [1993] that these conditions represent the same disorder, the convention has been to use the term Peters plus syndrome.

Alternate spellings of Peters plus syndrome include: Peters-plus syndrome, Peters'-plus syndrome, Peters' plus syndrome.

Prevalence

The prevalence of Peters plus syndrome is unknown. Fewer than 80 affected individuals of varied ethnic background have been reported in the literature.

Differential Diagnosis

Isolated Peters' anomaly can be inherited in an autosomal dominant or autosomal recessive manner or can occur in simplex cases (i.e., a single occurrence in a family) in which the mode of inheritance is unknown. It has been reported in association with mutations in the following genes: PAX6, CYP1B1, PITX2 (RIEG1), PITX3, FOXE3, and FOXC1.

The differential diagnosis of Peters plus syndrome includes other conditions with short stature and limb shortening, including the following:

Other syndromes involving anterior eye chamber anomalies include (but are not limited to) the following:

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Peters plus syndrome, the following evaluations are recommended:

  • Complete ophthalmologic assessment, including ocular ultrasonography for characterization of the eye anomaly and an assessment for associated ocular defects (indicated if not already done as part of the diagnostic work-up)
  • Growth hormone stimulation testing to address the possibility of a treatable cause of growth delay
  • For neonates or infants, referral to an infant development program for appropriate developmental assessment
  • Echocardiography for congenital heart malformations
  • Abdominal ultrasound examination for renal anomalies
  • Cranial imaging with head ultrasound examination or CT scan/MRI for hydrocephalus and/or structural brain abnormalities
  • Thyroid function testing in all infants who have not undergone newborn screening for congenital hypothyroidism
  • Hearing assessment in a child with cleft palate or speech delay
  • Medical genetics consultation

Treatment of Manifestations

Eye. Preservation of vision in the affected eye(s) often requires surgery. Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification is suggested prior to age three to six months to prevent amblyopia, whereas simple separation of iridocorneal adhesions may suffice in mild cases [Traboulsi 2006]. A retrospective review of long-term outcome following penetrating keratoplasty prior to age 18 months in type I Peters' anomaly revealed a visual acuity of 20/400 or better in two thirds of treated persons, and no individuals with phthisis bulbi or visual acuity reduced to light perception only [Zaidman et al 2007].

Management of amblyopia by a pediatric ophthalmologist is recommended for optimal visual outcome.

Congenital glaucoma in association with Peters' anomaly is more difficult to treat than primary infantile glaucoma. Surgery and medical management result in adequate intraocular pressure in only 32%, and associated ophthalmologic issues such as amblyopia or postoperative complications contribute to poor visual results in long-term outcome studies [Yang et al 2004].

Development. Children diagnosed as neonates or infants should be referred to an infant development program for appropriate developmental interventions.

Other. Additional management is symptomatic and expectant.

Surveillance

The following are appropriate:

  • Assessment by a pediatric ophthalmologist every three months or as indicated to monitor for glaucoma and amblyopia
  • Regular developmental assessments

Agents/Circumstances to Avoid

Agents that increase risk of glaucoma (e.g., corticosteroids) are to be avoided.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Peters plus syndrome is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes and thus carry one mutant allele.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. There is an increased chance for miscarriages and second- and third-trimester fetal loss of homozygously affected fetuses.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. The offspring of an individual with Peters plus syndrome are obligate heterozygotes (carriers) for a disease-causing mutation.

Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the disease-causing mutations have been identified in a family member, prenatal testing for pregnancies at increased risk is possible either through a clinical laboratory or a laboratory offering custom prenatal testing.

Preimplantation genetic diagnosis (PGD) may be an option for families in which the disease-causing mutation has been identified.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Cleft Palate Foundation (CPF)
    1504 East Franklin Street
    Suite 102
    Chapel Hill NC 27514-2820
    Phone: 800-242-5338 (toll-free); 919-933-9044
    Fax: 919-933-9604
    Email: info@cleftline.org
  • Foundation Fighting Blindness
    11435 Cronhill Drive
    Owings Mills MD 21117-2220
    Phone: 800-683-5555 (toll-free); 800-683-5551 (toll-free TDD); 410-568-0150
    Email: info@fightblindness.org
  • Human Growth Foundation (HGF)
    997 Glen Cove Avenue
    Suite 5
    Glen Head NY 11545
    Phone: 800-451-6434 (toll-free)
    Fax: 516-671-4055
    Email: hgf1@hgfound.org
  • MAGIC Foundation
    6645 West North Avenue
    Oak Park IL 60302
    Phone: 800-362-4423 (Toll-free Parent Help Line); 708-383-0808
    Fax: 708-383-0899
    Email: info@magicfoundation.org
  • National Eye Institute
    31 Center Drive
    MSC 2510
    Bethesda MD 20892-2510
    Phone: 301-496-5248
    Email: 2020@nei.nih.gov
  • Wide Smiles
    PO Box 5153
    Stockton CA 95205-0153
    Phone: 209-942-2812
    Fax: 209-464-1497
    Email: josmiles@yahoo.com

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A. Peters Plus Syndrome: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Peters Plus Syndrome (View All in OMIM)

261540PETERS-PLUS SYNDROME
610308UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL

Molecular Genetic Pathogenesis

Homozygosity for loss-of-function mutations in B3GALTL is associated with Peters plus syndrome.

Gene structure. B3GALTL, the β1,3-galactosyltransferase-like gene, contains 15 exons and covers 132 kb. It is expressed in a broad range of human tissues, with tissue-specific regulation. At least two transcripts of 4.2 kb and 3.4 kb are produced [Heinonen et al 2003]. For a detailed summary of gene and protein information, see Table A, Gene Symbol.

Pathogenic allelic variants. So far only fourteen different pathogenic variants have been reported (see also Table 1, LSDB Database in Table A); six of these are splice-site mutations, including the c.660+1G>A point mutation (the most frequently identified mutation in persons with Peters plus syndrome). In addition three large deletions, one frameshift mutation, two nonsense mutations, and two missense mutations located in the putative catalytic domain are known.

Table 2. Selected B3GALTL Pathogenic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.347+5G>ANM_194318​.3
NP_919299​.3
c.660+1G>A
c.1098T>Ap.Tyr366Ter

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. B3GALTL encodes B3GALTL (also referred to as β3Glc-T), a 498-amino acid-containing transmembrane protein. It has a short N-terminal tail, a transmembrane region, a "stem" region, and a C-terminal catalytic domain. B3GALTL functions as a glycosyltransferase in a specific O-glycosylation step. It contributes to the elongation of O-fucosylglycan, specifically on TSR (thrombospondin type repeat) domains; i.e., it adds a glucose in a β1,3 linkage to a fucose in TSR [Kozma et al 2006, Sato et al 2006]. The human genome encodes approximately 100 TSR-containing proteins that perform a variety of important biologic functions, including regulation of the coagulation system and cell and axon guidance.

Abnormal gene product. All pathogenic variants identified to date are expected to reduce or abolish the function of the protein. The exact effect of these mutations on the protein is not yet known.

References

Medical Genetic Searches: A specialized PubMed search designed for clinicians that is located on the PubMed Clinical Queries page Image PubMed.jpg

Literature Cited

  1. Boog G, Le Vaillant C, Joubert M. Prenatal sonographic findings in Peters-plus syndrome. Ultrasound Obstet Gynecol. 2005;25:602–6. [PubMed: 15912477]
  2. de Almeida JC, Reis DF, Llerena Júnior J, Barbosa Neto J, Pontes RL, Middleton S, Telles LF. Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. J Med Genet. 1991;28:277–9. [PMC free article: PMC1016833] [PubMed: 1856836]
  3. Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. Am J Med Genet. 1991;40:34–40. [PubMed: 1887847]
  4. Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A. 2009;149A:1842–5. [PMC free article: PMC2736557] [PubMed: 19610101]
  5. Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Mäki M, Kainulainen H. A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. Biochem Biophys Res Commun. 2003;309:166–74. [PubMed: 12943678]
  6. Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. The Peters'-Plus syndrome: description of 16 patients and review of the literature. Clin Dysmorphol. 1993;2:283–300. [PubMed: 7508316]
  7. Kivlin JD, Fineman RM, Crandall AS, Olson RJ. Peters' anomaly as a consequence of genetic and nongenetic syndromes. Arch Ophthalmol. 1986;104:61–4. [PubMed: 3079999]
  8. Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K. Congenital hypothyroidism in Peters plus syndrome. Ophthalmic Genet. 2006;27:67–9. [PubMed: 16754209]
  9. Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J. Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem. 2006;281:36742–51. [PubMed: 17032646]
  10. Krause U, Kovisto M, Rantakillio P. A case of Peters' syndrome with spontaneous corneal perforation. J Pediatr Ophthalmol. 1969;6:145–9.
  11. Lacombe D, Llanas B, Chateil JF, Sarrazin E, Carles D, Battin J. Severe presentation of Peters'-Plus syndrome. Clin Dysmorphol. 1994;3:358–60. [PubMed: 7894743]
  12. Lee KW, Lee PD. Growth hormone deficiency (GHD): a new association in Peters' Plus syndrome (PPS). Am J Med Genet A. 2004;124A:388–91. [PubMed: 14735587]
  13. Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006;79:562–6. [PMC free article: PMC1559553] [PubMed: 16909395]
  14. Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet A. 2005;132:381–5. [PubMed: 15654696]
  15. Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters' plus syndrome: a review. Ann Genet. 2002;45:97–103. [PubMed: 12119218]
  16. Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H. Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Glycobiology. 2006;16:1194–206. [PubMed: 16899492]
  17. Thompson EM, Winter RM, Baraitser M. Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? Clin Dysmorphol. 1993;2:301–16. [PubMed: 7508317]
  18. Traboulsi E. Peters anomaly. In: Stevenson RE, Hall JG, eds. Human Malformations and Related Anomalies. 2 ed. New York, NY: Oxford University Press; 2006:313-4.
  19. van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM. Peters'-plus: a new syndrome. Ophthalmic Paediatr Genet. 1984;4:141–5. [PubMed: 6443615]
  20. Yang LL, Lambert SR, Lynn MJ, Stulting RD. Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome. Ophthalmology. 2004;111:112–7. [PubMed: 14711722]
  21. Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol. 2007;144:104–8. [PubMed: 17601429]

Chapter Notes

Author History

Gudrun Aubertin, MD, MSc; Children’s & Women’s Health Centre of British Columbia (2007-2014)
Raoul Hennekam, MD, PhD (2014-present)
Marjolein Kriek, MD, PhD; Leiden University Medical Center (2011-2014)
Saskia AJ Lesnik Oberstein, MD, PhD (2007-present)
Martine van Belzen, PhD (2014-present)
Marjan M Weiss, MD, PhD; Leiden University Medical Center (2007-2011)

Revision History

  • 23 January 2014 (me) Comprehensive update posted live
  • 17 February 2011 (me) Comprehensive update posted live
  • 19 March 2009 (cd) Revision: deletion/duplication analysis available clinically
  • 8 October 2007 (me) Review posted to live Web site
  • 24 July 2007 (ga) Original submission
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