A Cornelia De Lange Syndrome Patient with Cleft Palate: A Case Report with Intraoral and Extraoral Findings

Abstract

Objective: This case report presents the clinical and genetic findings in a one-week-old male patient with Cornelia de Lange Syndrome (CdLS) and unilateral cleft palate with a review of literature which includes case reports with cleft lip and palate. Case Presentation: The patient exhibited characteristic facial dysmorphism, including a low-set hairline, long and bushy unibrow, inclined nose with anteverted nostrils, long philtrum, thin lips, and micrognathia. Upper limb malformations, genitourinary anomalies, and hirsutism were also present. The patient underwent comprehensive follow-up for five months, during which an alginate impression was taken to aid intraoral feeding, and a plaster model was prepared for the construction of an obturator, an essential component of the cleft palate management plan. The treatment plan involved multidisciplinary collaboration, including pre-surgical orthodontic preparation, evaluation of dental anomalies, surgical intervention with an oral and maxillofacial surgeon, post-operative care, and monitoring. Post-surgical orthodontic treatment and speech therapy were planned for later stages, followed by fine-tuning and a retention plan for long-term stability. Conclusion: CdLS is a complex genetic disorder characterized by various physical abnormalities. This case report demonstrated the management of a one-week-old male patient with CdLS and unilateral cleft palate through a comprehensive multidisciplinary approach. Early intervention, personalized treatment plans, and long-term follow-up are crucial for addressing dental and maxillofacial complications associated with cleft palate in CdLS patients. Collaborative efforts among specialists yield optimal outcomes, improving the quality of life for individuals with CdLS and cleft palate. Keywords: cornelia de lange, cleft palate, cleft lip

Keywords

• cornelia de lange
• cleft palate
• cleft lip

References

1. Yamamoto K, Horiuchi K, Uemura K, Shohara E, Okada Y, Sugimura M, et al. Cornelia de Lange syndrome with cleft palate. Int J Oral Maxillofac Surg. 1987 Aug;16(4):484-91. PubMed PMID: 3117925. eng.
2. Tranebjaerg L, Baekmark UB, Dyhr-Nielsen M, Kreiborg S. Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23). Clin Genet. 1987 Aug;32(2):137-43. PubMed PMID: 3652493. eng.
3. Sataloff RT, Spiegel JR, Hawkshaw M, Epstein JM, Jackson L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch Otolaryngol Head Neck Surg. 1990 Sep;116(9):1044-6. PubMed PMID: 2383389. eng.
4. Kim IT, Park JW, Choi WC. A Korean case of Cornelia de Lange syndrome. Korean J Ophthalmol. 2005 Jun;19(2):153-5. PubMed PMID: 15988935. eng.
5. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145c(3):248-60. PubMed PMID: 17640042. PMCID: PMC4902018. eng.
6. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007 Jun 15;143a(12):1287-96. PubMed PMID: 17508425. eng.
7. Liu J, Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 2009 Oct;76(4):303-14. PubMed PMID: 19793304. PMCID: PMC2853897. eng.
8. Park KH, Lee ST, Ki CS, Byun SY. Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. J Korean Med Sci. 2010 Dec;25(12):1821-3. PubMed PMID: 21165303. PMCID: PMC2995242. Epub 20101124. eng.

9. Galderisi A, De Bernardo G, Lorenzon E, Trevisanuto D. i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome. BMJ Case Rep. 2015 Mar 25;2015. PubMed PMID: 25809435. PMCID: PMC4386302. Epub 20150325. eng.
10. Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet. 2015 Jul;88(1):1-12. PubMed PMID: 25209348. Epub 20141028. eng.
11. Wenger TL, Chow P, Randle SC, Rosen A, Birgfeld C, Wrede J, et al. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. Am J Med Genet A. 2017 Feb;173(2):414-20. PubMed PMID: 28102598. Epub 20161107. eng.
12. Avagliano L, Bulfamante GP, Massa V. Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? Birth Defects Res. 2017 Jun 1;109(10):771-7. PubMed PMID: 28544538. Epub 20170522. eng.
13. Kang MJ, Ahn SM, Hwang IT. A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype. Ann Clin Lab Sci. 2018 Jan;48(1):106-9. PubMed PMID: 29531005. eng.
14. Jezela-Stanek A, Murcia PV, Jurkiewicz D, Iwanicka-Pronicka K, Jędrzejowska M, Krajewska-Walasek M, et al. Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype. Clin Dysmorphol. 2019 Jul;28(3):126-30. PubMed PMID: 30921088. eng.
15. Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clin Genet. 2020 Jan;97(1):3-11. PubMed PMID: 31721174. Epub 20191124. eng.
16. Sarogni P, Pallotta MM, Musio A. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet. 2020 May;57(5):289-95. PubMed PMID: 31704779. PMCID: PMC7231464. Epub 20191108. eng.
17. Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT. Cornelia de Lange syndrome and congenital diaphragmatic hernia. J Pediatr Surg. 2021 Apr;56(4):697-9. PubMed PMID: 32762940. Epub 20200611. eng.
18. Selicorni A, Mariani M, Lettieri A, Massa V. Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. Genes (Basel). 2021 Jul 15;12(7). PubMed PMID: 34356091. PMCID: PMC8307173. Epub 20210715. eng.
19. Panarotto M, Davidson IF, Litos G, Schleiffer A, Peters JM. Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2201029119. PubMed PMID: 35476527. PMCID: PMC9170158. Epub 20220427. eng.
20. Giani L, Michelini G, Nobile M, Ajmone PF, Vizziello PG, Scaini S. Behavioral markers of social anxiety in Cornelia de Lange Syndrome: A brief systematic review. J Affect Disord. 2022 Feb 15;299:636-43. PubMed PMID: 34953928. Epub 20211223. eng.
21. Reilly S, Carr L. Foreign body ingestion in children with severe developmental disabilities: a case study. Dysphagia. 2001 Winter;16(1):68-73. PubMed PMID: 11213248. eng.