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CASE REPORT
Year : 2015  |  Volume : 4  |  Issue : 3  |  Page : 193-195

Peters plus syndrome-like phenotype


Department of Pediatrics, Government Medical College and Hospital, Nagpur, Maharashtra, India

Date of Web Publication2-Jul-2015

Correspondence Address:
Abhay S Bagul
Department of Pediatrics, Government Medical College, Nagpur - 440 003, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.154119

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  Abstract 

A 2 days old full term male neonate, born to unrelated parents, is presented with bilateral corneal opacity. With the presence of clinical features such as bilateral Peters' anomaly, short stature, cleft lip and palate, typical facial features (thin upper lip, round face, low set ears, small ear pinna, broad neck, and small palpebral fissures) and congenital heart defect, we established diagnosis of Peters plus syndrome-like phenotype due absence of mutation in beta 1,3-glucosyltransferase. We report this rare case and reviewed literature. All patients with bilateral Peters' anomaly should be screened for systemic malformations.

Keywords: Cleft lip/palate, corneal opacity, Peters plus syndrome, Peters′ anomaly


How to cite this article:
Bagul AS, Bokade C M, Saruk P V, Supare M S. Peters plus syndrome-like phenotype. J Clin Neonatol 2015;4:193-5

How to cite this URL:
Bagul AS, Bokade C M, Saruk P V, Supare M S. Peters plus syndrome-like phenotype. J Clin Neonatol [serial online] 2015 [cited 2021 Jan 21];4:193-5. Available from: https://www.jcnonweb.com/text.asp?2015/4/3/193/154119


  Introduction Top


Common cause of corneal opacity at birth is Peters' anomaly. Peters' anomaly is a rare form of anterior segment dysgenesis during development. A recent review of 58 cases of Peters' anomaly has reported frequent association of systemic malformations with bilateral Peters' anomaly. [1] Peters plus syndrome is characterized by anterior chamber eye anomalies (Peters' anomaly), short stature, developmental delay, cleft lip/palate and typical facial features. [2] Peters plus syndrome is rare genetic disorder and only about 70 cases are reported worldwide. The term Peters plus syndrome was first coined in 1984 by a Dutch Ophthalmologist van Schooneveld. [3] We report a neonate, presented with bilateral Peters' anomaly, short stature, cleft lip and palate, congenital heart defect and typical facial features, and reviewed literature.


  Case Report Top


A 2 days old full term male neonate on breast feeding referred to our hospital for bilateral corneal opacity and cleft lip and palate. Baby was born out of a nonconsanguineous marriage to a primigravida mother and there was no history of congenital defects in the family. Antenatal history was uneventful.

On examination, vitals were stable. Length was <3 rd percentile and weight was appropriate for gestational age. On examination of eye, right cornea has central opacity (about 7 mm by 8 mm) [Figure 1] and left cornea has small peripheral opacity at 7 o'clock position [Figure 2]. In left eye, coloboma of iris was also present at 7 o' clock position. In both eyes, there were no iridocorneal synechiae. Schiotz tonometry under general anaesthesia showed normal intraocular pressure (IOP) in both eyes. Left sided cleft lip and palate was present [Figure 3]. Thin upper lip, round face, low set ears, small ear pinna [Figure 4], broad neck and small palpebral fissures were present. There was no brachydactyly or rhizomelic limb shortening [Figure 5]. On cardiovascular system examination, pansystolic murmur with wide fixed split of second heart sound was present. Other systemic examination was normal.
Figure 1: Right eye-corneal opacity

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Figure 2: Left eye-corneal opacity with iris coloboma

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Figure 3: Facial features with left cleft lip and palate

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Figure 4: Lateral view of face showing low set ears and small pinna

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Figure 5: Normal arm and hand

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B-scan ocular ultrasonography of both eyes showed normal lenses and no abnormality behind iris. Echocardiography showed ventricular septal defect of 6 mm and atrial septal defect of 4 mm. Ultrasonography of abdomen and computed tomography scan of brain was normal. Vertebras were normal on X-rays. Thyroid function tests were normal. Hearing screening by automated auditory brainstem response was normal. Karyotyping showed normal 46XY chromosome. Sequence analysis of beta 1,3-glucosyltransferase gene (B3GALTL) revealed absence of mutation. Patient was advised penetrating keratoplasty at 3 months of age to prevent deprivation amblyopia and repair of cleft lip at 3 months. Follow-up advised for examination of IOP measurement, gonioscopy, inspection of optic nerve, and refraction every 3 months for early diagnosis of glaucoma.


  Discussion Top


Peters' anomaly is rare finding at birth and can be due to single gene defect or associated with other systemic malformations. Peters plus syndrome, also known as Krause-Kivlin syndrome, is a congenital disorder of glycosylation, inherited in an autosomal recessive fashion. It is caused by mutation in B3GALTL gene, located on chromosome 13(13q 12.3) and common mutation detected in intron 8 is c. 660 + 1G > A. [4]

Sequence analysis of B3GALTL gene should be performed for confirmation of diagnosis and if mutations are not identified, deletion or duplication analysis should be performed.

A clinical diagnosis of Peters plus syndrome is based on the presence of defects in anterior chamber of eye or unilateral/bilateral Peters' anomaly, cleft lip/palate, characteristic facial features, short stature and variable degree of psychomotor delay. [2] Other frequently associated malformations reported are congenital heart defects (33%), genitourinary anomalies (10-19%), structural brain malformations, hearing defect and congenital hypothyroidism. Peters' anomaly is divided into two types, depending upon whether or not the lens is abnormal and it may be associated with other abnormalities of eye like aniridia, iris coloboma and microphthalmos. Peters' type I has an absence of Descemet's membrane and endothelium in the area of the corneal opacity with underlying iridocorneal synechiae. The opacification often involves the central cornea; however, can affect the entire cornea. Type II is severe,has lens abnormalities and can be associated with cataract and glaucoma. Typical facial features which can be easily picked up during examination are prominent forehead, narrow palpebral fissures, a long philtrum, a cupid's bow-shaped upper lip, broad lower lip, small ear pinna, low set ears, and broad neck. In addition to this, few Authors have reported unusual associations with Peters plus syndrome such as midline defects, [5] hypoplastic left heart syndrome and anterior eye staphyloma, [6] and skeletal malformations. [7]

Our patient has bilateral Peters' anomaly (Type I) with left iris coloboma, cleft lip and palate, typical facial features, short stature and congenital heart defect. Psychomotor delay may or may not be present. [8] Our patient needs follow-up for confirmation of psychomotor delay. For establishment of diagnosis of Peters plus syndrome, mutation in B3GALTL is required, [4] and as mutation is absent in our patient, we did diagnosis of Peters plus syndrome-like phenotype. [9] We could not do deletion or duplication analysis of B3GALTL gene in our patient. Published studies have reported cases of Peters plus syndrome with typical clinical manifestations and absence of mutation in B3GALTL. [4],[9],[10] However, all typical features of Peters plus syndrome were not found in these patients with absence of mutation and absence of brachydactyly in our patient can be explained by this. Even after extensive MEDLINE and other databases search, we couldn't find other diagnosis for these phenotypic features. Carrier detection and prenatal diagnosis can be done, if disease causing mutations are identified.

All patients with bilateral Peters' anomaly should be screened for systemic malformations. Awareness about Peters plus syndrome is necessary, as once the confirmed molecular diagnosis is available in the proband, antenatal diagnosis and prevention is possible in future pregnancies.

 
  References Top

1.
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR. Peters anomaly: Review of the literature. Cornea 2011;30:939-44.  Back to cited text no. 1
    
2.
Aubertin G, Kriek M, Lesnik Oberstein SA. Peters plus syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. [Last accessed on 2007 Oct 08; Last updated on 2011 Feb 17]. Available from: file:///C:/Users/admin/Desktop/Peter/Peters%20Plus%20Syndrome%20-%20GeneReviews%E2%84%A2%20-%20NCBI%20Bookshelf.htm. [updated 2011Feb17; cited 2014 Nov 21].  Back to cited text no. 2
    
3.
van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM. Peters′- plus: A new syndrome. Ophthalmic Paediatr Genet 1984;4:141-5.  Back to cited text no. 3
    
4.
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, et al. Mutation analysis of B3GALTL in Peters plus syndrome. Am J Med Genet A 2008;146A: 2603-10.  Back to cited text no. 4
    
5.
Neilan E, Pikman Y, Kimonis VE. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet 2006;27:63-5.  Back to cited text no. 5
    
6.
Shimizu R, Saito R, Hoshino K, Ogawa K, Negishi T, Nishimura J, et al. Severe Peters plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome. Congenit Anom (Kyoto) 2010;50:197-9.  Back to cited text no. 6
    
7.
Mwenda AS. Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: A case report. J Med Case Rep 2012;6:16.  Back to cited text no. 7
    
8.
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, et al. The Peters′- plus syndrome: Description of 16 patients and review of the literature. Clin Dysmorphol 1993;2:283-300.  Back to cited text no. 8
    
9.
Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, et al. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet 2014;86:142-8.  Back to cited text no. 9
    
10.
Siala O, Belguith N, Fakhfakh F. An unusual case of Peters plus syndrome with sexual ambiguity and absence of mutations in the B3GALTL gene. Iran J Pediatr 2013;23:485-8.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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