Genetic studies in congenital anterior midline cervical cleft

Jakobsen, Linda P.; Pfeiffer, Per; Andersen, Mette Klarskov; Eiberg, Hans; Hansen, Lars Hestbjerg; Mang, Yuan; Bak, Mads; Møller, Rikke S.; Klitten, Laura L.; Tommerup, Niels

doi:10.1002/ajmg.a.35466

Cited by 13 publications

(19 citation statements)

References 14 publications

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“…However, this did not prevent cicatrical contracture, and further corrective surgery was required. A similar situation was described by Jacobsen et al (2012), in which one of their initial surgeries to close a cervical cleft was performed on a patient who was 7 months of age, but because of cicatrical contracture, microgenia, and a recurrence of the fibrous cord on the front of the neck, another Z-plasty was performed when the patient was 10 years of age.…”

Section: Discussionmentioning

confidence: 64%

“…A review of the literature indicates that the earlier the primary surgical correction of CMCC is performed, the more favorable the outcome. It is believed that the optimum time for surgical intervention is the period before the end of the second year of life, but more severe forms of this malformation should be operated on earlier (Eastlack et al, 2000; Genc et al, 2002; Mlynarek et al, 2003; Jacobsen et al, 2012; Puscas, 2015). Researchers generally agree that performing the surgical procedure at an early age does not impair mandibular growth (Ercocen et al, 2002; Hirokawa et al, 2003; Derbez et al, 2004; Cheng et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

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Craniofacial Morphology in Midline Cervical Cleft: Case Report and Review of Literature

Cudziło¹,

Borysewicz−Lewicka²,

Obłoj³

2017

The Cleft Palate-Craniofacial Journal

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Congenital midline cervical cleft is a rare anomaly of the neck. This paper presents the case of a boy diagnosed with this disorder in which a preliminary orthodontic treatment was implemented. The craniofacial anomalies associated with this malformation produced a defect that could only be successfully treated through the implementation of orthodontic and surgical treatments. In this case, congenital midline cervical cleft was accompanied by certain disorders within the facial structures of the skull, primarily mandibular retrusion, flattening of the contour of the mandibular base, and a steep angle between the cranial base and the mandibular plane.

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Section: Discussionmentioning

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Craniofacial Morphology in Midline Cervical Cleft: Case Report and Review of Literature

Cudziło¹,

Borysewicz−Lewicka²,

Obłoj³

2017

The Cleft Palate-Craniofacial Journal

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“…Our list of 66 genes does not contain genes previously identified as mutated in a previous ES study of CMCC. 11…”

Section: Resultsmentioning

confidence: 99%

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients

Masood

Mieczkowski

Malc

et al. 2020

Ann Otol Rhinol Laryngol

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Objectives: Congenital midline cervical cleft (CMCC) is a rare congenital anterior neck anatomical anomaly. We present the case of two related patients (grandchild and maternal grandmother) who were both born with a congenital midline cervical cleft along with genetic analysis. Methods: Clinical examination of both patients and surgical excision of the grandchild was performed. Genetic analysis with exome sequencing (ES) was conducted for both patients. Results: Genetic analysis with exome sequencing (ES) revealed apparently novel single nucleotide variants in 66 genes present in both proband and grandmother. Five of these variants are predicted to cause frameshifting in the coding region of the respective genes and truncated proteins ( OVGP1, TYW1B, ZAN, SSPO, FOLR3). Two of these genes ( TYW1B and SSPO) have homozygous indel mutations in both patients. Conclusions: To our knowledge, this is the first case of two related patients with a congenital midline cervical cleft. The results of our genetic analysis reveal potential relevance to CMCC development.

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“…Jakobson et al [12] in 2012 did a genetic analysis on 3 cases of isolated CMCC. Two mutations were found: deletion of the pregnancy associated plasma protein A (PAPPA) and mutation in the SIX5 gene.…”

Section: Discussionmentioning

confidence: 99%

Congenital Midline Cervical Cleft and W-Plasty: Our Experience

Bahakim

François

Abbeele

2018

International Journal of Otolaryngology

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Objectives Congenital midline cervical cleft (CMCC) is a very uncommon congenital anomaly of the midline anterior neck, and although it has very pathognomonic features (including nipple-like protuberance), it could be mistaken for other congenital neck lesions, such as thyroglossal duct cyst and branchial apparatus anomalies. Thus, it represents a challenging diagnosis. In this 21-patient series, we discuss the clinical features of CMCC, its pathophysiology characteristics, and its modalities management. Material and Methods We conducted a retrospective chart review of children presenting with CMCC at our institution, between January 1998 and January 2016. Results Twenty-one patients were identified with CMCC. Ages ranged between 1 day and 14 years. The length of the lesion varied from 0.5 to 5 cm, and the size of the skin tag varied from 0.2 to 1.5cm. No other significant associated anomalies were found. Surgery was the mainstay treatment, and no recurrence was found. W-plasty was used in most patients to close the defect. Conclusion With a little more than 200 published cases, our series represents the largest series worldwide. The lesion is usually isolated, and no further investigation is required. Surgery is the mainstay of treatment, with complete excision being usually curative. It should be treated at an early age to prevent complications. In our experience, W-plasty was a good alternative to the most commonly used Z-plasty, in skin closure, with respect to both aesthetic and functional results.

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Genetic studies in congenital anterior midline cervical cleft

Cited by 13 publications

References 14 publications

Craniofacial Morphology in Midline Cervical Cleft: Case Report and Review of Literature

Craniofacial Morphology in Midline Cervical Cleft: Case Report and Review of Literature

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients

Congenital Midline Cervical Cleft and W-Plasty: Our Experience

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