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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 2  |  Issue : 2  |  Page : 139-142

Fraser syndrome without cryptophthalmos: A rare case report


Department of Orthodontics, Sharad Pawar Dental College, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra, India

Date of Web Publication17-Aug-2015

Correspondence Address:
Dr. Jimmy Kishan Sangtani
Department of Orthodontics, Sharad Pawar Dental College, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-2125.162978

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  Abstract 

Fraser syndrome is a rare autosomal recessive multisystem disorder characterized by features such as cryptophthalmos, syndactyly, congenital malformations, and abnormal genitalia. We report a case of 13-year-old male, who had multiple congenital anomalies and clinico radiological features consistent with Fraser syndrome without cryptophthalmos.

Keywords: Cryptophthalmos, Fraser syndrome, syndactyly


How to cite this article:
Sangtani JK, Kamble RH, Shrivastav S, Sharma N. Fraser syndrome without cryptophthalmos: A rare case report. J Cleft Lip Palate Craniofac Anomal 2015;2:139-42

How to cite this URL:
Sangtani JK, Kamble RH, Shrivastav S, Sharma N. Fraser syndrome without cryptophthalmos: A rare case report. J Cleft Lip Palate Craniofac Anomal [serial online] 2015 [cited 2019 Feb 19];2:139-42. Available from: http://www.jclpca.org/text.asp?2015/2/2/139/162978


  Introduction Top


Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or  Ullrich-Feichtiger syndrome More Details) is an autosomal recessive congenital disorder. George R. Fraser, the geneticist, in 1962 was first to publish the case of two siblings with cryptophthalmos, syndactyly, ear and noses defects, laryngeal stenosis, and renal and genitalia malformations. [1] Zehender and coworkers in 1872 were the first to report a similar complex malformation syndrome. [2] It is a rare, pleiotropic multiple congenital anomaly syndrome which combines acro-facial and urogenital malformations with or without cryptophthalmos. [3] The reported incidence is 0.043 per 10,000 liveborn infants and 1.1 in 10,000 stillbirths. Till now, <100 cases have been reported worldwide. [4] Frasers syndrome shows genetic heterogeneity due to mutations in the FRAS1 gene or in the FREM2 gene located on the long arm of chromosome 4 (4q21). [5]


  Case Report Top


A 13-year-old male child reported to our outpatient department with multiple missing teeth and treated bilateral cleft lip and palate [Figure 1]. Patient was second child of consanguineous healthy parents, born at term by vaginal delivery following a normal pregnancy with no history of any complications during pregnancy. After birth bilateral cleft lip and palate, syndactyly of hands and feet, enlarged hydronephrotic left kidney, and dilated left ureter were seen.
Figure 1: Extraoral photographs, (a) frontal view; (b) lateral view


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On clinical examination, an average height to weight ratio of 56 inch and 81.57 pound and syndactyly of both hands and feet [Figure 2] were seen with history of surgical release of syndactyly of hands at the age of 1-year and feet at the age of 10 years.
Figure 2: Syndactly of hands and feet, (a) radiograph of syndactyly of feet before surgical release; (b and c) radiograph and clinical picture of syndactyly of feet after surgical release; (d) clinical picture syndactyly of hands after surgical release


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Extraoral examination [Figure 1] shows dolichocephalic head; asymmetric, leptoprosopic, hyperdivergent face with straight profile; hypertelorism; obtuse nasolabial angle and shallow mentolabial sulcus; competent lips with scar seen bilaterally on upper lip with the history operated bilateral cleft lip at the age of 3 months and wide nasal base with depressed nasal tip.

Intraoral examination [Figure 3] shows operated cleft palate with history of repair at the age of 18 months; multiple missing teeth, enamel hypoplasia, multiple restored teeth; dentoalveolar angle class III malocclusion with complete anterior and posterior crossbite (Baru's classification score 5) and anterior deep bite of 5 mm.
Figure 3: Intraoral photographs, maxillary and mandibular occlusal view; right left and frontal view


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Past dental history of rampant caries in all deciduous teeth at the age if 5 years [Figure 4] was present. Extraction of all primary teeth except lower anteriors had to be done under general anesthesia due to Frankel's definitively negative behavior scale.
Figure 4: Orthopantomograph and Lateral cephalogram at 5 years of age


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Patient underwent cystoscopy and urethral dilation under GA at 12 years of age due to recurrent urinary tract obstruction. Investigations like computed tomography urogram [Figure 5], ultrasonography abdomen and dynamic renal scintigraphy (99mTc-DTPA) [Figure 6] revealed severe left hydroureteronephrosis extending up to distal ureter with obstructive nephropathy and torturous dilated ureter up to ureterovesical junction and shows partial tracer stasis upto 1 h and right renal agenesis.
Figure 5: Computed tomography urogram


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Figure 6: (a) Ultrasonography abdomen and (b) dynamic renal scintigraphy (99mTc-DTPA)


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Current investigations like orthopantomogram, maxillary occlusal radiograph, and lateral and posteroanterior cephalograms are shown in [Figure 7] and [Figure 8].
Figure 7: Current radiographs (a) orthopantomogram and (b) maxillary occlusal radiograph


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Figure 8: Current radiographs (a) lateral cephalogram and (b) posteroanterior cephalogram


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  Discussion Top


Craniofacial anomalies are a diverse and complex set of conditions which include isolated and multiple anomalies of genetic or nongenetic origin and are characterized by changes in the structure of the skull and/or face.

The findings of our case are compatible with the diagnosis of Fraser syndrome according to the diagnostic criteria proposed by Thomas et al. [3] given in [Table 1]. The presence of two major criteria and one minor criterion or one major and at least four minor criteria were required for the diagnosis of Fraser syndrome.
Table 1: Diagnostic criteria by Thomas et al.


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Van Haelst et al. revised the diagnostic criteria through the addition of airway tract and urinary tract anomalies to the major criteria and suggested that the diagnosis of Fraser syndrome can be made if either three major criteria, or two major and two minor criteria, or one major and three minor criteria are present in a patient. [6]

Consanguinity is reported in 15-24% of cases and the recurrence rate among siblings is 25% and an autosomal recessive pattern of inheritance. [7]

Fraser syndrome is otherwise known as cryptophthalmos syndrome. However, cryptophthalmos is not an essential component of this syndrome. A review of 87 cases by Thomas et al. showed the absence of cryptophthalmos in 14 cases. [3]

Syndactyly has been considered as a major feature of Fraser syndrome that occurs in 77% of the patients. Syndactyly is always cutaneous and in most cases, involves fingers and toes. [8]

Schauer et al., 1990 reported abnormalities of the urinary tract include bilateral agenesis with the hypoplastic urinary bladder. [9]

Fraser syndrome should be suspected in all cases of stillbirths with renal agenesis. 25% of affected individuals are stillborn and 20% die before 1-year of age. Death is usually secondary to renal agenesis and laryngeal stenosis. No affected individual has been reported to have reproduced. [10]

In our case the features of hypertelorism, syndactyly of hands and feet, bilateral cleft lip and palate, right renal agenesis, left renal hydronephrosis, and normal height weight ratio are suggestive of Fraser syndrome without cryptophthalmos. The unique features of this case are the age of patient, the absence of cryptophthalmos and no mental retardation.

There is a great variation in possible malformation of Fraser syndrome. So the diagnosis should be confirmed strictly adhering to the diagnostic criteria of Fraser syndrome.

For managing such cases, the prime concern is overall health of the patient followed by functional stability and the esthetics. Which can be achieved by surgical correction of cleft lip and palate; expansion of maxillary arch; orthodontic decompensation followed by orthognathic surgery involving mandibular setback along with implant placement and prosthetic replacement of multiple missing teeth to achieve functional stability and esthetic harmony.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Francannet C, Lefrançois P, Dechelotte P, Robert E, Malpuech G, Robert JM. Fraser syndrome with renal agenesis in two consanguineous Turkish families. Am J Med Genet 1990;36: 477-9.  Back to cited text no. 1
    
2.
Khoury E, Golalipour MJ, Haidary K, Adidi B. Fraser or cryptophthalmos syndrome: A case report. Arch Iran Med 2004;7:307-9.  Back to cited text no. 2
    
3.
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet 1986;25:85-98.  Back to cited text no. 3
[PUBMED]    
4.
Narang M, Kumar M, Shah D. Fraser-cryptophthalmos syndrome with colonic atresia. Indian J Pediatr 2008;75:189-91.  Back to cited text no. 4
    
5.
Kiyozumi D, Sugimoto N, Sekiguchi K. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A 2006;103:11981-6.  Back to cited text no. 5
    
6.
van Haelst MM, Scambler PJ; Fraser Syndrome Collaboration Group, Hennekam RC. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A 2007;143A:3194-203.  Back to cited text no. 6
    
7.
Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 2002;39:623-33.  Back to cited text no. 7
    
8.
Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet 1990;37:84-96.  Back to cited text no. 8
    
9.
Schauer GM, Dunn LK, Godmilow L, Eagle RC Jr, Knisely AS. Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. Am J Med Genet 1990;37: 583-91.  Back to cited text no. 9
    
10.
Jones KJ. Smith′s Recognizable Pattern of Human Malformations. 5 th ed. Philadelphia: W.B. Saunders co.; 1999. p. 242-4.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
 
 
    Tables

  [Table 1]



 

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