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MEDICAL IMAGES
Year : 2014  |  Volume : 5  |  Issue : 1  |  Page : 85

Fraser syndrome


Department of Pediatrics, Father Muller Medical College, Mangalore, Karnataka, India

Date of Web Publication15-Mar-2014

Correspondence Address:
K Shreedhara Avabratha
Department of Pediatrics, Father Muller Medical College, Mangalore - 575 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-9727.128965

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How to cite this article:
Krishnan D, Avabratha K S, D'Souza A. Fraser syndrome. Muller J Med Sci Res 2014;5:85

How to cite this URL:
Krishnan D, Avabratha K S, D'Souza A. Fraser syndrome. Muller J Med Sci Res [serial online] 2014 [cited 2019 Oct 16];5:85. Available from: http://www.mjmsr.net/text.asp?2014/5/1/85/128965

Fraser syndrome (FS) or cryptoptholmos syndrome is a rare inherited disorder characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. [1] It is named after George Fraser who first described the syndrome in 1962. The incidence of FS is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths with an autosomal recessive inheritance. [2] In an article in 1986, Thomas et al. [3] proposed the diagnostic criteria for FS: Four major (i) cryptophthalmos (ii) syndactyly (iii) genital anomalies and (iv) sibling history of FS; eight minor (i) alterations of nose (ii) ears (iii) larynx (iv) cleft lip and/or palate (v) umbilical hernia (vi) renal agenesis (vii) skeletal anomalies (viii) mental retardation. A diagnosis of FS is suggested if there are at least two major and one minor criteria, or one major and four minor criteria.

Here we are reporting the case of a still born baby with cryptophthalmos delivered by vaginal delivery (pre-term 30-32 weeks) to a primi. She never had ultrasound scans during the antenatal period. The following anomalies were noted: Right cryptophthalmos, syndactyly and micotia thus fitting into FS [Figure 1], [Figure 2], [Figure 3] and [Figure 4].
Figure 1: Fraser syndrome showing cryptophthalmos, malformed ears and syndactyly

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Figure 2: Fraser syndrome showing cryptophthalmos, malformed ears and syndactyly

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Figure 3: Fraser syndrome showing cryptophthalmos, malformed ears and syndactyly

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Figures 4: Fraser syndrome showing cryptophthalmos, malformed ears and syndactyly

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Consanguinity is reported in 15-24% of cases. No diagnostic cytogenetic abnormalities have been documented in affected patients. Mutations in genes - Fras1, Frem1 and Frem2 located on long arm of chromosome 4 (4q21) encoding extracellular matrix proteins have been implicated in mouse models. [1] Prenatal diagnosis of FS includes a combination of ultrasound and fetoscopy and is suggested as early as 18 weeks of gestation, particularly in families with affected siblings. FS should be suspected in all cases of stillbirths with renal agenesis. Prevention by genetic counseling would be the best approach, the recurrence rate among siblings being 25%.

 
  References Top

1.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. 1
    
2.Kalaniti K, Sandhya V. Fraser syndrome in three consecutive siblings. Oman J Ophthalmol 2011;4:87-9.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
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
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    Figures

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



 

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