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Fraser Syndrome Adnan Aslam Saleem and Sorath Noorani Siddiqui

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Fraser Syndrome Adnan Aslam Saleem and Sorath Noorani Siddiqui CASE REPORT Fraser Syndrome Adnan Aslam Saleem and Sorath Noorani Siddiqui ABSTRACT Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. Key Words: Cryptophthalmos. Syndactyly. Fraser syndrome. INTRODUCTION intense light stimulus. There was complete CO Fraser Syndrome (FS) is a rare autosomal recessive bilaterally with no evidence of eyelids or eyelashes. malformation characterized by cryptophthalmos (CO), Eyebrow was partially formed on the right but ill syndactyly, laryngeal and urogenital defects.1 It has a demarcated on the left side. The right globe was large reported incidence of 0.043 per 10,000 live births and and cystic on palpation. The left globe was adherent to 1.1 in 10,000 stillbirths.2 George Fraser first described it the overlying skin and microphthalmic (Figure 1a). as a complex disorder with multiple anomalies and Hypertelorism was also present. The nasal and oral named it 'cryptophthalmos syndrome'. CO is not a passages, ears and facial features were normal. regular feature of this syndrome; hence, the eponym On systemic examination, both hands showed complete 'Fraser syndrome' is preferred. FS is genetically syndactyly. There was also bilateral syndactyly of all heterogeneous with multiple genes being implicated.3 toes (Figure 1b). The child had widely spaced nipples There are around 200 reported cases of FS and CO. To and an umbilical hernia (Figure 1c). Genitalia were our knowledge, this is the first reported case of FS in ambiguous with a phallus, complete labial fusion and Pakistan. absent testes. Remainder of the systemic examination was unremarkable. CT scan of the orbits and brain CASE REPORT confirmed a large cystic swelling in the right orbit and a A 3 months infant was brought to us by his parents with microphthalmic eye on the left (Figure 1d). Brain complaints of skin covering his eyes. The infant was structures were normal. A diagnosis of FS was made born to consanguineous healthy parents, the product of primarily on clinical findings. Genetic analysis was not their sixth pregnancy. The baby was born at term by done due to financial constraints. The parents did not opt vaginal delivery at home following a normal pregnancy. for surgical intervention after we explained the Infant's birth weight was 2.2 kg. Parents belonged to a prognosis. low socioeconomic background with limited access to medical facilities. No pre-natal record was available. All DISCUSSION the previous children are normal with no dysmorphology. A primary defect of apoptosis has been suggested as There was no family history of any congenital anomalies. the cause of FS, since several of the anomalies result The mother had one miscarriage before this baby at 12 from failure of programmed cell death. Mutations in weeks of gestation. FRAS1 and FREM2 (4q21) have been implicated. On clinical examination, the infant did not respond to MOTA (manitoba-oculo-tricho-anal) and BNAR (bifid nose, renal agenesis and anorectal malformations) syndromes have also been linked with mutations of Department of Pediatric Ophthalmology and Strabismus, FREM1 gene. A mutation(s) in GRIP1, which encodes a AL-Shifa Trust Eye Hospital, Rawalpindi. scaffolding protein that interacts with Fras1/Frem Correspondence: Dr. Adnan Aslam Saleem, House No. 322, proteins, has recently been associated with FS. In the Street 64-66, E-11/3, Islamabad. remainder of cases, it may be supposed that mutant E-mail: [email protected] alleles of other genes, not as yet identified, are to Received: July 23, 2014; Accepted: August 28, 2015. blame.1,3 S124 Journal of the College of Physicians and Surgeons Pakistan 2015, Vol. 25 (Special Supplement 2 of Case Reports): S124-S126 Fraser syndrome renal and/or laryngeal ano- malies; however, if these anomalies are not present, the life expectancy is more or less normal.2 FS can be diagnosed by antenatal ultrasound as early as 13 weeks of gestation.7 On ultrasound, Figure 1(a,b,c,d): (a) Bilateral complete cryptophthalmos. (b) Cutaneous syndactyly of the hand and feet. (c) Umbilical hernia and ambiguous genitalia. (d) Right cystic swelling and left microphthalmic globe. complete tracheal agenesis manifests as massive Table I: Major and minor criteria for diagnosing Fraser syndrome.4 hyperechoic lungs and complete renal agenesis as Major criteria Minor criteria oligohydramnios. Other ultrasonographic features that 1. Syndactyly, 1. Anorectal defects, are highly suggestive are CO, microphthalmia, facial 2. Cryptophthalmos spectrum 2. Dysplastic ears asymmetry, syndactyly and obstructive uropathy.8 3. Urinary tract abnormalities 3. Skull ossification defects A high maternal serum alpha-fetoprotein level also 4. Ambiguous genitalia 4. Umbilical abnormalities 2 5. Laryngeal and tracheal anomalies 5. Nasal anomalies increases the suspicion of FS. In families with a 6. Positive family history previously affected child or in cases of previous still-birth due to renal or laryn-geal anomalies, it is vital that CO (hidden eye behind an unopened eyelid) is a rare mothers undergo a detailed antenatal ultrasound at 14 - disorder where the eyelids are fused. It is often bilateral 16 weeks. and symmetric. It is divided into three types; complete, The ocular management of FS is complex and incomplete and abortive. multifaceted. The urgency of surgery depends on the The complete variety is the most common. The eyelids presence of any visual potential and the degree of do not form and the eyelid skin grows continuously from exposure keratopathy. In cases of complete CO, there is the forehead to the cheek. The globe is generally slim possibility of gaining useful vision even with abnormal with absence or poor development of the surgery; however, if electrodiagnostic tests infer that ocular adnexa. The incomplete variety presents with there is visual potential, surgeon(s) may feel obligated to facial skin fusing to the medial aspect of the globe with intervene in order to salvage some vision. some eyelid structures present laterally. In symble- In cases of incomplete and partial CO, results of surgery pharon or abortive CO, the upper eyelid skin fuses to the depend on the degree of lid involvement and the superior portion of the globe, thus forming the anterior integrity of the underlying ocular tissue. Cornea requires layers of the cornea. urgent treatment from birth to avert exposure Anterior segment abnormalities associated with FS keratopathy. The eyelids can be reconstructed with include corneal clouding, sclerocornea, microphthalmia, mucous membrane grafts in combination with local microcornea and anophthalmia that could possibly mucocutaneous or eyelid sharing grafts such as pedicle be confused with Peters' plus or Walker-Warburg rotation flaps or Mustarde switch flaps.9 Moreover, the syndrome. underlying globe must be reconstructed which entails Diagnostic criteria for distinguishing between isolated dissecting the corneal adhesions from keratinized CO and FS were provided by Thomas et al. and most cornea, membrane grafts to the globe and keratoplasty. recently the diagnostic criteria were revised by Van The success of complex lid reconstruction is limited by Haelst et al.4 Diagnosis of FS can be made if 3 major defective tear production, lack of healthy conjunctiva criteria; or 2 major and 2 minor criteria; or 1 major and 3 and by underlying defects like anterior segment minor criteria are present (Table I). In this case, we have dysgenesis. Furthermore, delivery of anaesthesia and 10 CO, syndactyly and abnormal genitalia as three major its complications have to be evaluated pre-operatively. criteria and umbilical hernia as the minor criterion. A pre-natal diagnosis is imperative for guiding parents Consanguinity has been found in families with more than regarding prognosis, management and for genetic one affected child, estimated to be around 15 - 25%. CO counselling for future pregnancies. In uterogene therapy is present in 85 - 93% of the cases (unilateral 25 - 28%, may ultimately be the final frontier of this potentially fatal bilateral 45 - 48%), syndactyly in 54 - 58%, laryngeal autosomal recessive disorder. anomalies in 21 - 31%, genital malformations in 17 - 31% and renal agenesis in 23% of the cases.5,6 REFERENCES 1. Fraser G. Fraser syndrome: two millennia of cryptophthalmos Twenty five percent of the affected infants are stillborn, from Pliny the Elder to FRAS, FREM and GRIP: a historical whereas 20% die before the age of one year because of perspective. Open J Genet 2013; 3:1-7. Journal of the College of Physicians and Surgeons Pakistan 2015, Vol. 25 (Special Supplement 2 of Case Reports): S124-S126 S125 Adnan Aslam Saleem and Sorath Noorani Siddiqui 2. Touré A, Diomandé IA, Nouraly H. Bilateral cryptophthalmos in et al. Fraser syndrome: epidemiological study in a European Fraser syndrome: case report and review of the literature. population. Am J Med Genet A 2013; 161:1012-8. J Fr Ophtalmol 2015; 38:e97-e100. 7. Leung E, Diaz-Barbosa M, Alabiad C, Hodapp E, Tse D, Murray 3. Hoefele J, Wilhelm C, Schiesser, Mack R, Heinrich U, Weber TG, et al. Pre-natal ultrasonographic detection of ophthal-mic LT, et al.
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