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LETTER TO THE EDITOR
Year : 2018  |  Volume : 11  |  Issue : 4  |  Page : 381-382  

Apert syndrome with respiratory distress in a newborn: Our experience in a rural setting


Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano, Nigeria

Date of Web Publication2-Aug-2018

Correspondence Address:
Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjdrdypu.MJDRDYPU_243_17

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How to cite this article:
Aliyu I. Apert syndrome with respiratory distress in a newborn: Our experience in a rural setting. Med J DY Patil Vidyapeeth 2018;11:381-2

How to cite this URL:
Aliyu I. Apert syndrome with respiratory distress in a newborn: Our experience in a rural setting. Med J DY Patil Vidyapeeth [serial online] 2018 [cited 2019 Oct 22];11:381-2. Available from: http://www.mjdrdypv.org/text.asp?2018/11/4/381/238177



Dear Sir,

Apert syndrome is an acrocephalosyndactyly; other forms of acrocephalosyndactyly are Pfeiffer syndrome and Crouzon syndrome;[1] these are characterized by the presence of craniofacial (craniosynostosis), and limb defects, however, Crouzon syndrome is devoid of limb abnormalities.[1] It is an autosomal dominant disorder with mutation in the fibroblast growth factor receptor 2 gene.[2] This mutation results in transformation of pluripotent stem cells to bone-forming cells and failure of apoptosis in cells on the extremities results in syndactyly.[3] Apert syndactyly may be cutaneous, osseous, or both; and it has been classified as types 1–3 depending on the severity/complicity of the fusions.[4] Craniosynostosis may result in proptosis (due to shallow orbits); elevated intracranial pressure and blindness.[5] It maybe association with other congenital malformations;[6] however, its association with choanal atresia has been reported in only 23% of cases.[7] Apert syndrome is a rare congenital defect with reported incidence of 1:65,000;[5] and very few cases have been reported in Nigeria.[6],[8]

The index case was a 28-day-old male delivered at term to a 25-year-old mother and a 49-year-old father in a nonconsanguineous union. He was the third child in a family of 5 children and there was no family history of similar defect; the pregnancy and delivery were not adversely eventful. At the 8th day of life, he developed difficulty with breathing which subsided 5 days later; however, 3 days to presentation, the difficulty in breathing reoccurred; this was associated with complaint of upper respiratory infection. Afterward, he had recurrent episodes of difficulty in breathing, which was associated with central cyanosis which was relieved following crying episodes; the physical examination revealed a thickened, fused cranial sutures (sagittal and coronal sutures), there was syndactyly of the hands and feet [Figure 1]; there was also symphalangism of the proximal phalanges. This was classified as type 3 syndactyly. X-ray of the extremities revealed bony syndactyly. There was a midface hypoplastic with bilateral choanal stenosis. The stenosis in the index case was exacerbated by rhinitis which resulted in complete nasal obstruction. Upper airway obstruction in Apert syndrome is multifactoral; the mechanisms involved include nasopharyngeal obstruction (such as choanal stenosis), reduced pharyngeal height, and decreased nasal airway passage;[8] other respiratory anomalies include laryngeal stenosis [9] and solid cartilaginous trachea.[10]
Figure 1: Symmetrical syndactyly affecting both the upper and lower limbs

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Apert syndrome can be diagnosed in utero,[2] especially from the second trimester using two-dimensional and three-dimensional ultrasound scan which shows syndactyly and abnormally shaped skull.[2] Other abnormalities identifiable are frontal bossing; deformities of occipital lobe of the cerebral hemispheres, and the lateral ventricles.[3] However, ultrasound was not done in the index case because the mother had no antenatal care during pregnancy. Newborns are predominant nasal breathers; therefore, obstruction of the nasal passage as was observed in the index case may result in obstructive apnea and cyanosis. Crying opens the mouth with sufficient air entry thereby relieving the hypoxia and cyanosis.

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Freiman A, Tessler O, Barankin B. Apert syndrome. Int J Dermatol 2006;45:1341-3.  Back to cited text no. 1
    
2.
David AL, Turnbull C, Scott R, Freeman J, Bilardo CM, van Maarle M, et al. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn 2007;27:629-32.  Back to cited text no. 2
    
3.
Pooh RK, Nakagawa Y, Pooh KH, Nakagawa Y, Nagamachi N. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. Ultrasound Obstet Gynecol 1999;13:274-80.  Back to cited text no. 3
    
4.
Upton J. Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg 1991;18:321-55.  Back to cited text no. 4
    
5.
Balogun M, Balogun B, Adekoya B, Popoola R. Apert syndrome in Lagos – A case report and literature review. Niger Med Pract 2013;63:21-5.  Back to cited text no. 5
    
6.
Ofodile FA, Adeloye A. Acrocephalosyndactyly with hydrocephalus and dextrocardia in a Nigerian child. J Natl Med Assoc 1982;74:800-3.  Back to cited text no. 6
    
7.
Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, et al. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 1995;57:321-8.  Back to cited text no. 7
    
8.
Lauritzen C, Lilja J, Jarlstedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg 1986;77:1-6.  Back to cited text no. 8
    
9.
Cohen MM Jr., Kreiborg S. An updated pediatric perspective on the Apert syndrome. Am J Dis Child 1993;147:989-93.  Back to cited text no. 9
    
10.
Cohen MM Jr., Kreiborg S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 1992;44:90-3.  Back to cited text no. 10
    


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