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Year : 2015  |  Volume : 4  |  Issue : 4  |  Page : 278-280

Congenital midline cervical cleft: Case report and literature review

1 Department of Pediatric, Division of Neonatal, Security Forces Hospital, Riyadh 11481, Saudi Arabia
2 Department of Surgery, Pediatric Surgery, Security Forces Hospital, Riyadh 11481, Saudi Arabia
3 Department of Pathology, Security Forces Hospital, Riyadh 11481, Saudi Arabia

Date of Web Publication16-Oct-2015

Correspondence Address:
Mohammed Zain Seidahmed
Department of Pediatric, Security Forces Hospital, Riyadh 11481
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2249-4847.161720

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Congenital midline cervical cleft (CMCC) is a very rare malformation of the anterior neck. We present a case of a male neonate with typical features of this anomaly who underwent Z-plasty repair at the age of 2 months with excellent cosmetic and functional outcome. We recommend early surgical intervention to avoid complications, which result if surgery is delayed. To the best of our knowledge, this is the first case of CMCC to be reported from Saudi Arabia.

Keywords: Branchial arch, midline cervical cleft, Z-plasty

How to cite this article:
Oshi AM, Al-Sofiani MM, Abdulbasit OB, Al Bhlal LA, Seidahmed MZ. Congenital midline cervical cleft: Case report and literature review. J Clin Neonatol 2015;4:278-80

How to cite this URL:
Oshi AM, Al-Sofiani MM, Abdulbasit OB, Al Bhlal LA, Seidahmed MZ. Congenital midline cervical cleft: Case report and literature review. J Clin Neonatol [serial online] 2015 [cited 2022 Jan 16];4:278-80. Available from: https://www.jcnonweb.com/text.asp?2015/4/4/278/161720

  Introduction Top

Congenital midline cervical cleft (CMCC), is a rare congenital anomaly involving the anterior neck resulting from the failure of fusion of thefirst and second branchial arches during embryogenesis. It wasfirst described by Luschka [1] in 1848, Bailey [2] reported another case in 1924, and the abnormality was fully described by Ombredanne [3] in 1946. Only about 100 cases have been reported in the literature hitherto.[4] CMCC is considered to be a variant of Tessier 30 craniofacial clefts. It is present at birth but may be overlooked or misdiagnosed and delayed in surgical repair that may cause complications such as impaired neck extension, microgenia, exostosis, torticollis or infection. Our patient was managed early by the Z-plasty technique with excellent outcome.

  Case Report Top

A Saudi male newborn delivered normally following an uneventful pregnancy to a mother G5P4 + 0. Parents werefirst cousins and no family history of note. Birth weight 3300 g. Examination revealed a 2.0 cm long and 0.5 cm wide midline cervical lesion extending from the level of the hyoid bone to the level above the suprasternal notch. The superior end was firm nipple-like connected by a longitudinal sulcus to the inferior end, which formed a sinus discharging mucinous material [Figure 1]a. No other associated abnormalities were noted. From the classical features, a diagnosis of CMCC was made. Thyroid function test was normal and ultrasound scan showed normal thyroid structure and no cyst or collections. Surgical excision was performed at the age of 2 months. The cleft with nipple-like skin tag, underlying fibrotic tissue, and the sinus were excised, and the vertical elliptical wound was closed by primary Z-plasty technique [Figure 1]b and [Figure 1]c. On follow-up, at the age of 1-year there was excellent cosmetic and functional outcome with no limitation of neck extension and nice wound healing [Figure 1]d.
Figure 1: (a) At birth, congenital midline cervical cleft showing: (1) Nipple like hood, (2) cleft, (3) sinus. (b) Z-plasty marking preoperative (2 months old). (c) Z-plasty wound closure. (d) At the age of 1-year, note full extension of neck and nice healing of the Z-plasty wound

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Histological findings of the excised tissues showed the skin cleft was covered by acanthotic and hyperkeratotic epidermis covering a fibrotic dermis devoid of skin adnexae [Figure 2]a. The upper part of the cleft was lined by stratified squamous epithelium with parakeratosis, and the lower part was lined by respiratory epithelium [Figure 2]b arrow. Skeletal muscle bundle was noted in the dermis [Figure 2]c arrow. Seromucinous glands noted the dermis of the sinus [Figure 2]d. Normal skin was noted at the shoulder of the sinus.
Figure 2: (a) Acanthotic hyperkeratotic epidermis covering fibrotic dermis. (b) Squamous epithelium noted at the upper part and respiratory epithelium noted at the lower part (arrow). (c) Skeletal muscle bundle was noted in the dermis (arrow). (d) Seromucinous glands (arrow) present in the dermis of the sinus

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  Discussion Top

CMCC is a rare congenital anomaly of the neck. The exact pathogenesis is still speculative. The most accepted theory is that it results from failure of fusion of thefirst and second branchial arches.[5] Other mechanisms of defective fusion have been proposed such as ischemia and necrosis secondary to mechanical factors and vascular anomalies,[5] failure of the mesenchyme to penetrate the midline with poor interaction between the mesoderm and ectoderm, and pressure exerted on cervical area by pericardial roof had also been postulated.[6],[7] The clinical presentation, like our patient, who presented with classical features of CMCC consists of three elements: (1) A small nipple-like skin tag at the cephalic end, (2) a middle cleft, and (3) a small sinus tract in the caudal part.[7] CMCC may be associated with other anomalies of the head and neck, including clefts of the lower lip, mandible, chin and tongue and underdeveloped mandible, and hypoplasia or absence of supporting structures of the neck as the hyoid bone.[8] CMCC has also been associated with defects in other parts of the body including cleft sternum, midline abdominal web or scar-like raphe as well as congenital heart lesions as ectopia and intracardiac anomalies.[8] Histological characteristics of CMCC consist of striated squamous epithelium having surface parakeratosis with absent adenexa in the dermis,[9] plus the presence of striated muscle tissue under the skin, and presence of respiratory epithelium or seromucinous glands. These are similar histologic findings as our case.

CMCC is reported to be sporadic with a predominance of the female gender.[10] Genetic studies are in progress and with advances in molecular genetics and whole exome sequencing, the genes involved in causing this condition will soon be unraveled. The genetic studies focus on the mutation in the SIX 5 gene and detection of the pregnancy-associated plasma protein A as potential candidates.[11]

Treatment of CMCC is surgical intervention. The defect should be repaired as soon as possible to avoid complications such as cicatricial neck contracture and resulting limitations of neck movements, micrognathia, and torticollis.[12],[13] Our patient was operated on at 2 months of age with excellent cosmetic and functional outcome [Figure 1]d. The preferred procedure is excision of the cleft along with the sinus and repair by multiple Z-plasty techniques as advocated by Gargan et al.[10]

  Conclusion Top

We present thefirst case of CMCC from Saudi Arabia, and we strongly recommend early surgical intervention with Z-plasty repair to avoid complications due to delayed surgery.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Luschka H. Verber congenital cervical fistula. Arch Physiol Heil 1948;7:25.  Back to cited text no. 1
Bailey H. Thyroglossal cysts and fistulae. Br J Surg 1924;12:579-89.  Back to cited text no. 2
Ombredanne L. Chrurgie infantli. Paris: Masson; 1946.  Back to cited text no. 3
Saha VP, Pal S, Saha S, Misra S. Congenital midline cervical cleft: A 7 year prospective study. Indian J Otolaryngol Head Neck Surg 2013;65:367-70.  Back to cited text no. 4
Gottlieb E, Lewin ML. Congenital midline clefts of the neck. NY State J Med 1966;66:712-8.  Back to cited text no. 5
Van Duyn J. Congenital midline cervical cord with report of a case and a note on the etiology of congenital torticollis. Plast Reconstr Surg 1963;31:576-86.  Back to cited text no. 6
Vander Staak F, Pruscczynski M, Severijnen R. The mid-line cervical cleft. J Ped Surg 1991;9:731-9.  Back to cited text no. 7
Kakodkar K, Patel S, Maddalozzo J. Congenital midline cervical cleft. Otolaryngology 2013;3:132.  Back to cited text no. 8
Patil SB, Kale SM, Math M, Khare N. Congenital midline cervical cleft leading to contracture of neck. Indian J Plast Surg 2011;44:509-10.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
Gargan TJ, McKinnon M, Mulliken JB. Midline cervical cleft. Plast Reconstr Surg 1985;76:225-9.  Back to cited text no. 10
Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, et al. Genetic studies in congenital anterior midline cervical cleft. Am J Med Genet A 2012;158A:2021-6.  Back to cited text no. 11
McInnes CW, Benson AD, Verchere CG, Ludemann JP, Arneja JS. Management of congenital midline cervical cleft. J Craniofac Surg 2012;23:e36-8.  Back to cited text no. 12
Sinopidis X, Kourea HP, Panagidis A, Alexopoulos V, Tzifas S, Dimitriou G, et al. Congenital midline cervical cleft: Diagnosis, pathologic findings, and early stage treatment. Case Rep Pediatr 2012;2012:951040.  Back to cited text no. 13


  [Figure 1], [Figure 2]


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