A case report of Apert syndrome

Nugraha Wahyu Cahyana

doi:10.15562/bmj.v12i2.4481

A case report of Apert syndrome

Nugraha Wahyu Cahyana ,

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DOI: https://doi.org/10.15562/bmj.v12i2.4481 |
Published: 2023-06-25

Abstract

Link of Video Abstract: https://youtu.be/ahjJloTwZQE

Introduction: Apert syndrome (AS) is a rare type 1 acrocephalosyndactyly syndrome, characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. It exhibits autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene.

Case Illustration: We presently describe the case of a 14 years old male patient with acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, crowding of teeth and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum, and severe bilateral syndactyly of hands and feet. The examination revealed apical cranium, occipital flattening, enlargement and hypoplasia of the premaxillary opening, crowding, ectopic teeth, tapering of the mandibular apex, and pseudognathia.

Conclusion: We reported a 14 years old male patient with AS with craniosynostosis and acrocephalosyndactyly. The characteristics of clinical manifestation of AS should be aware by physicians to be able to diagnose the disease.

References

Wheaton SM. Two specimens of congenital cranial deformity in infants associated with fusion of fingers and toe. Trans Pathol Soc. 1894;45:238-241.
Apert E. De l'acricephalosyndactylie. Bull Soc Med Hop Paris. 1906;23:1310-1330.
Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, editors. Grabb and Smith's Plastic Surgery. 5th ed. Philadelphia: Lippincott Raven; 1997. p. 295-304.
Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, et al. Clinical variability in patients with Apert's syndrome. J Neurosurg. 1999;90:443-447.
Upadhyaya V, Upadhyaya DN, Sarkar S. Apert's syndrome A case report. Ind J Radiol Imag. 2005;4:477-480.
Bartlett SP, Derderian CA. Grab and smith's Plastic Surgery: Cranyosynostosis syndromes. 7th ed. Philadelphia: Lippincott Williams & Wilkins; 2014. p. 232-240.
Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. Int J Biol Sci. 2017;13(12):1479-1488.
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13:48-53.
Rogers BO. Reconstructive Plastic Surgery: Embryology of the Face and Introduction to Craniofacial Anomalies. 2nd ed. Philadelphia:WB Saunders Company; 2014. p. 2297-2319.
Kocha TT. Apert syndrome: a case report and review of the literature. North Clin Istanbulb. 2016;3(2):135–139.
Yonenobu K, Tada K, Tsuyuguchi Y. Apert's syndrome: a report of five cases. 1982;14:317-325.
Behari N, Horwood A, Shipster C. S12-S13 Session 12: Faciocraniosynostosis-Part II Speech and Language Outcomes in Children with Apert Syndrome Between 6;0 and 8;11 Years; A Consecutive Series. Plast Reconstr Surg Glob Open. 2019;7(8S-2):158.
Avantaggiato A, Carinci F, Curioni C. Apert's syndrome: cephalometric evaluation and considerations on pathogenesis. J Craniofac Surg. 1996;7(1):23-31.
Lu X, Sawh-Martinez R, Jorge Forte A, Wu R, Cabrejo R, Wilson A, et al. Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis. Plast Reconstr Surg Glob Open. 2019;7(3):e2158.
Stavropoulos D, Tarnow P, Mohlin B, Kahnberg KE, Hagberg C. Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction. Swed Dent J. 2012;36(1):25-34.
Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301(5633):643-646.
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13(1):48-53.
Hajihosseini MK, Duarte R, Pegrum J, Donjacour A, Lana-Elola E, Rice DP, et al. Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. Dev Dyn. 2009;238(2):376-385.

[1] Wheaton SM. Two specimens of congenital cranial deformity in infants associated with fusion of fingers and toe. Trans Pathol Soc. 1894;45:238-241.

[2] Apert E. De l'acricephalosyndactylie. Bull Soc Med Hop Paris. 1906;23:1310-1330.

[3] Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, editors. Grabb and Smith's Plastic Surgery. 5th ed. Philadelphia: Lippincott Raven; 1997. p. 295-304.

[4] Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, et al. Clinical variability in patients with Apert's syndrome. J Neurosurg. 1999;90:443-447.

[5] Upadhyaya V, Upadhyaya DN, Sarkar S. Apert's syndrome A case report. Ind J Radiol Imag. 2005;4:477-480.

[6] Bartlett SP, Derderian CA. Grab and smith's Plastic Surgery: Cranyosynostosis syndromes. 7th ed. Philadelphia: Lippincott Williams & Wilkins; 2014. p. 232-240.

[7] Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. Int J Biol Sci. 2017;13(12):1479-1488.

[8] Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13:48-53.

[9] Rogers BO. Reconstructive Plastic Surgery: Embryology of the Face and Introduction to Craniofacial Anomalies. 2nd ed. Philadelphia:WB Saunders Company; 2014. p. 2297-2319.

[10] Kocha TT. Apert syndrome: a case report and review of the literature. North Clin Istanbulb. 2016;3(2):135–139.

[11] Yonenobu K, Tada K, Tsuyuguchi Y. Apert's syndrome: a report of five cases. 1982;14:317-325.

[12] Behari N, Horwood A, Shipster C. S12-S13 Session 12: Faciocraniosynostosis-Part II Speech and Language Outcomes in Children with Apert Syndrome Between 6;0 and 8;11 Years; A Consecutive Series. Plast Reconstr Surg Glob Open. 2019;7(8S-2):158.

[13] Avantaggiato A, Carinci F, Curioni C. Apert's syndrome: cephalometric evaluation and considerations on pathogenesis. J Craniofac Surg. 1996;7(1):23-31.

[14] Lu X, Sawh-Martinez R, Jorge Forte A, Wu R, Cabrejo R, Wilson A, et al. Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis. Plast Reconstr Surg Glob Open. 2019;7(3):e2158.

[15] Stavropoulos D, Tarnow P, Mohlin B, Kahnberg KE, Hagberg C. Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction. Swed Dent J. 2012;36(1):25-34.

[16] Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301(5633):643-646.

[17] Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13(1):48-53.

[18] Hajihosseini MK, Duarte R, Pegrum J, Donjacour A, Lana-Elola E, Rice DP, et al. Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. Dev Dyn. 2009;238(2):376-385.

A case report of Apert syndrome

Abstract

References

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