|Year : 2021 | Volume
| Issue : 1 | Page : 91-94
Apert syndrome: A rare case requiring multidisciplinary approach for a better living
Sasikala A Elizabeth, Kalpana S Narendran
Department of Paediatric Ophthalmology and Strabismus, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
|Date of Submission||21-Apr-2020|
|Date of Decision||03-Sep-2020|
|Date of Acceptance||20-Jul-2020|
|Date of Web Publication||27-Mar-2021|
Dr. Sasikala A Elizabeth
Department of Paediatric Ophthalmology and Strabismus, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Avinashi Road, Coimbatore - 641 014, Tamil Nadu
Source of Support: None, Conflict of Interest: None
A 7-year-old boy presented with watering, prominent eyes and defective vision. He had brachycephaly, hypertelorism, shallow proptotic orbits, large exotropia, and syndactyly of the hands and feet. Lateral cephalogram showed fused sutures and mid-facial hypoplasia. He had typical features and diagnosed with Apert syndrome. He underwent lateral tarsorrhaphy and advised to use regular artificial tear substituents. Further, he was referred and received multidisciplinary care helping the child for a better living. Apert syndrome is a rare challenging form of craniosynostosis, and the role of an ophthalmologist in monitoring the visual development in these children is extremely important.
Keywords: Acrocephalosyndactyly, Apert syndrome, craniosynostosis
|How to cite this article:|
Elizabeth SA, Narendran KS. Apert syndrome: A rare case requiring multidisciplinary approach for a better living. TNOA J Ophthalmic Sci Res 2021;59:91-4
|How to cite this URL:|
Elizabeth SA, Narendran KS. Apert syndrome: A rare case requiring multidisciplinary approach for a better living. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Apr 23];59:91-4. Available from: https://www.tnoajosr.com/text.asp?2021/59/1/91/312282
| Introduction|| |
Apert syndrome is a rare acrocephalosyndactyly, comprising a triad of craniosynostosis, midfacial hypoplasia, and symmetrical syndactyly (hallmark).,,,,, Its prevalence is 1 in 65,000 live births.,, It is inherited in an autosomal dominant pattern[1 3] caused due to a point mutation in the FBF receptor 2 gene., Wheaton described it in 1894, and later, Apert summarized nine cases in 1906.,
| Case Report|| |
A 7-year-old boy presented with the complaints of watering, prominent eyes, defective vision, and deformity of the face, hand, and feet since birth. He was a full-term baby with a delayed cry and treated for respiratory distress during the early neonatal period. His parents were nonconsanguineously married, and he was born when his father was in his fifth decade. No other family members with similar features were noted.
External examination of the child revealed flattened occiput with frontal prominence (turribrachycephaly), hypertelorism, retruded midface, depressed nasal bridge, bulbous nose tip, prognathic mandible, and trapezoid configuration of the upper lip [Figure 1]a and [Figure 2]. Orbital measurements of the case in comparison to the normative age-matched measurement are provided in [Table 1]. Intraoral examination revealed crowded malaligned teeth and high-arched palate. Cutaneous features showed symmetrical syndactyly of both hands (mitten hand), with syndactyly release scar between 2nd, 3rd, and 5th digit; further, a symmetrical syndactyly of toes (sock foot) was also observed [Figure 1]c and [Figure 1]d. His other systemic evaluation was normal.
|Figure 1: (a) Lateral tarsorrhaphy of both eyes with proptosis. (b) Lateral cephalogram: Turribrachycephaly, fused sutures, and honey-comb appearance of the skull, shallow orbit, ocular hypertelorism, and hypoplastic maxilla. (c and d) Syndactyly of hands and feet; note the surgical scar between the hand|
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|Table 1: Orbital measurements of the present case in comparison to the normative age-matched measurement|
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On ophthalmic evaluation, his UCVA (OU) was 6/18 with correction (OU) 6/9. He had lateral tarsorrhaphy of both eye with proptosis [Figure 1]a. His anterior examination and dilated fundus examination were normal. He had pooling of tears with negative ROPLAS. No evidence of exposure keratitis was noted. Orthoptic evaluation revealed large angle exotropia [Figure 2] with “V” pattern and over action of both inferior oblique muscles (+3) [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d, [Figure 3]e, [Figure 3]f, [Figure 3]g, [Figure 3]h, [Figure 3]i. He had alternate suppression on Worth-4-Dot test and absent stereopsis. Radiographic findings of the lateral cephalogram and limb extremities are described in [Figure 1]b and [Figure 4]a, [Figure 4]b, respectively.
|Figure 3: (a-i) Nine-gaze photograph showing large alternate exotropia, “V“ pattern with overaction of both the inferior oblique muscle (+3)|
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|Figure 4: Radiographs of limb extremities: (a) Syndactyly of hands, displaced phalanges of 2nd digit postsurgical syndactyly release. (b) Osseous syndactyly of digits, fusion of the interphalangeal joints, synostosis of proximal 1st and 2nd metatarsals, and partial duplication and delta-shaped proximal phalanx of big toe|
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Apert, Crouzon, and Pfeiffer syndrome have a similar clinical presentation. Presence of syndactyly of hand and feet and deep high-arched palate rules out Crouzon syndrome. A near-normal IQ and less prominent proptosis and mild hypertelorism favor Apert syndrome., The absence of a broad thumb and big toe and the presence of a bony syndactyly rule out Pfeiffer syndrome., As the clinical features were typical of Apert syndrome and parents were not prepared, a molecular genetic analysis was not sough.
[Table 2] shows comparison of clinical features of Apert and Crouzon syndrome with the present case. Our patient has all the typical features of acrocephalosyndactyly syndrome.
|Table 2: Comparison of clinical features of Apert syndrome and Crouzon syndrome with the present case|
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The child underwent bilateral lateral tarsorrhaphy for exposure keratitis 2 years back and advised topical lubricants for surface protection. He was further referred to a pediatric orthopedician and underwent surgery for relieving fusion of his fingers a year ago. He had undergone ENT consult and confirmed normal hearing ability, an orthodontic consult where in planned for correction of his dental malformation. At present, he received best glasses (+2.0 DS) in a large frame with head band and attached foam nasal pad that elevated the spectacle from corneal plane. Parents did not accept for a strabismus correction.
| Discussion|| |
Apert syndrome and other craniosynostosis are quite a challenge for the ophthalmologists. Multiple etiological hypotheses such as virus embryopathy following maternal infection, antenatal drug consumption by mothers, inflammatory process at the base of the skull, maldevelopment of the skull, and high paternal age have been proposed. The point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene (FGFR2 gene) are mostly seen in children of parents with advanced age (paternal age).,, This paternal mutation occurs in male germ line and is transmitted to the offspring and called as selfish spermatogonial selection. The child's father was in his fifth decade during conception. The clinical manifestations are due to fused calvarial and skull base sutures, and these lead to restriction of intracranial and orbital space expansion. Once suture becomes fused, growth perpendicular to that sutures is restricted., Cause of visual impairment includes compressive optic neuropathy, strabismus, refractive error, and corneal exposure, resulting in keratitis. Cases with sudden vision loss due to papilledema with no accompanying symptoms of intracranial hypertension have been reported. Khong et al. surveyed the spectrum of ophthalmic morbidity in Apert syndrome. Only 2% underwent craniofacial operation. Fifty-four percent had visual impairment, and the common causes were strabismus, ametropic amblyopia, and anisometropic amblyopia in 35%, 69%, and 50%, respectively. In a study done to determine the ocular abnormalities among 18 children with FGFR2 gene mutation, majority of subjects had strabismus, ptosis, nasolacrimal duct obstruction, and refractive error. Further, those with S252W mutation had severe ocular phenotype.
Treatment involves multidisciplinary teamwork including craniofacial surgeon, neurosurgeon, neurologist, ENT, ophthalmologist, audiologist, pediatrician, speech pathologist, oral-surgeon, psychologist, and orthodontist., The role of ophthalmologist in monitoring the visual development in children with craniosynostosis is extremely important. Strabismus is common in craniosynostosis ranging from 39% to 91%. The mechanism of strabismus in these disorders could be due to absent muscle, anomalous insertion of muscles, excyclotorsion of muscles, and instability of muscle pulleys., Surgical option can be considered in these complex ocular misalignments and should be considered as case based. Timing for surgical correction of strabismus is controversial. Spectacles proved challenges due to hypertelorism, proptosis, and lack of nasal bridge. Further, patching therapy with poor compliance is often encountered in an exophthalmic child, making amblyopia therapy fruitless. Lateral and medial tarsorrhaphy can be performed for severe proptosis for globe protection and to improve cosmetic appearance. Frequent lubricant application and ointment at bedtime are advisable for corneal protection. Few patients have mild mental retardation and mostly have normal intelligence., These children are faced with psychological and social challenges due to physical appearance. Family requires counseling to handle the situation. Definitive treatment is not available. Corrective surgery for anatomical deformities will improve cosmosis and can provide functional cure. Timely management and regular follow-up by the ophthalmologist for children with Apert syndrome are essential.
| Conclusion|| |
Apert syndrome results from premature fusion of cranial sutures and is often associated with ophthalmologic comorbidities. Syndactyly of the feet and hands is the hallmark of this syndrome. The rarity of Apert syndrome and the spectra heterogeneity make it essential to provide timely multidisciplinary intervention, hence offering a better quality of life. This report attempts to throw some light on the clinical, radiographic features and treatment modalities available for this rare syndrome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]
[Table 1], [Table 2]