Midline Cervical Cleft: A Rare Congenital Anomaly

2010 ◽  
Vol 119 (11) ◽  
pp. 786-790
Author(s):  
Gayathri Mandya Renukaswamy ◽  
Marlene A. Soma ◽  
Benjamin E. J. Hartley
Keyword(s):  
Congenital Anomaly ◽  
Differential Diagnosis ◽  
Surgical Excision ◽  
Soft Tissue Defect ◽  
Suprasternal Notch ◽  
Anterior Neck ◽  
Street Hospital ◽  
Rare Congenital Anomaly ◽  
Great Ormond Street Hospital ◽  
Midline Cervical Cleft

Objectives: A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. Methods: We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Results: Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. Conclusions: An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

scholarly journals Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Rachelle Goldfisher ◽  
Pritish Bawa ◽  
Zachary Ibrahim ◽  
John Amodio
Keyword(s):  
Congenital Anomaly ◽  
Pediatric Surgery ◽  
Clinical Presentation ◽  
Imaging Features ◽  
Rare Congenital Anomaly ◽  
Rare Anomaly ◽  
Work Up ◽  
Midline Cervical Cleft

Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features.

The value of radiological investigations in pre-endoscopic assessment of children with stridor

1995 ◽  
Vol 109 (9) ◽  
pp. 844-848 ◽  
Author(s):  
P. M. J. Tostevin ◽  
R. de Bruyn ◽  
A. Hosni ◽  
J. N. G. Evans
Keyword(s):  
Differential Diagnosis ◽  
Barium Swallow ◽  
Lateral Neck ◽  
Referral Centre ◽  
Tertiary Referral ◽  
Tertiary Referral Centre ◽  
Street Hospital ◽  
Great Ormond Street Hospital ◽  
Retrospective Audit ◽  
Endoscopic Assessment

AbstractThe differential diagnosis of stridor in an infant depends on a careful history and examination, followed by radiological and endoscopic investigations. Currently a chest, lateral neck and antero-posterior, high kilovolt (Cincinnatti) view radiographs in association with a diagnostic barium swallow are performed prior to the definitive diagnostic procedure of microlaryngobronchoscopy.Our impression was that some of the routinely ordered radiological investigations were of limited value in the differential diagnosis. We undertook a retrospective audit study to determine the value of radiological investigations in the pre-endoscopic assessment of infants with stridor. The radiological and endoscopic information of 100 infants presenting over the three-year period 1991–1993 at Great Ormond Street Hospital, London (a tertiary referral centre) was collected.It was found that only five out of 65 barium swallow investigations performed had consistent positive findings at diagnostic microlaryngobronchoscopy. The lateral neck and Cincinnatti views identified many of the more gross pathologies of the larynx and trachea e.g. the space occupying lesions, which occur infrequently. The more common diseases e.g. laryngomalacia or subglottic stenosis are rarely identified radiologically.Our results confirmed that radiology had a limited screening role and that in a child presenting with stridor the initial radiological assessment should be a chest radiograph with further imaging and a barium swallow only if an abnormality is found at microlaryngobronchoscopy.

scholarly journals Bilateral Ulnar-Sided Wrist Pain due to Pisiform-Hamate Coalition

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Ingo Nolte ◽  
Flavien Mauler ◽  
Tomás Sánchez
Keyword(s):  
Congenital Anomaly ◽  
Differential Diagnosis ◽  
Pain Relief ◽  
Incidental Finding ◽  
Rare Condition ◽  
Wrist Pain ◽  
Rare Congenital Anomaly ◽  
Important Differential Diagnosis ◽  
Complete Pain Relief ◽  
History Of

Coalition between the pisiform and the hamate is a rare congenital anomaly, often presenting as an asymptomatic incidental finding on radiographs. In some cases, it may become symptomatic, typically after trauma. We present a 13-year-old patient, with no history of trauma, presenting a bilateral painful coalition of the pisiform and hamate. Both of which were treated with excision of the pisiform resulting in complete pain relief. Pisiform-hamate coalition is a rare condition, which can become symptomatic even without any trauma or overuse activity, and is an important differential diagnosis in ulnar-sided wrist pain.

Congenital Midline Cervical Cleft: A Case Report with Review of Literature

2017 ◽  
Vol 8 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Ashwin A Jaiswal ◽  
Bikram K Behera ◽  
Ravindranath Membally ◽  
Manoj K Mohanty
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Classical Case ◽  
Review Of Literature ◽  
Suprasternal Notch ◽  
Anterior Neck ◽  
Thyroglossal Duct Cysts ◽  
Bronchogenic Cysts ◽  
Head Neck ◽  
Midline Cervical Cleft

ABSTRACT Aim To highlight a rare case of a congenital midline cervical cleft (CMCC) in context with embryological theories/hypothesis, presentation, and management along with review of literature. Introduction Congenital midline cervical cleft is a rare but interesting anterior neck anomaly with controversial theories/ hypothesis regarding its embryogenesis. Case report We describe here a classical case of midline cervical cleft that presented at birth with a cephalocaudal orientation, extending from the level below the hyoid bone to the suprasternal notch with a length of 3 cm and width of 0.5 cm. At 6 months of age, the lesion was excised and closure was done by multiple Z-plasty, with satisfactory results. Discussion Although the diagnosis is clinical, it is frequently misdiagnosed. The associated clinical features could include thyroglossal duct cysts, cleft lip/mandible/sternum, cervical contractures, mandibular spurs, microgenia, and/or bronchogenic cysts. If it is not treated at an early age, it can result in complications like webbing of the neck, dental malocclusion, and restricted neck movements. Conclusion Earliest recognition of CMCC and proper intervention can provide better esthetic and functional prognosis. Clinical significance A correct earlier recognition of the lesion and appropriate surgical management are key to avoid longterm complications. How to cite this article Jaiswal AA, Behera BK, Membally R, Mohanty MK. Congenital Midline Cervical Cleft: A Case Report with Review of Literature. Int J Head Neck Surg 2017;8(1):25-30.

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

2020 ◽  
Vol 129 (7) ◽  
pp. 653-656
Author(s):  
Maheer M. Masood ◽  
Piotr Mieczkowski ◽  
Ewa P. Malc ◽  
Ann Katherine M. Foreman ◽  
James P. Evans ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Exome Sequencing ◽  
Surgical Excision ◽  
Coding Region ◽  
Single Nucleotide Variants ◽  
Anterior Neck ◽  
Single Nucleotide ◽  
Anatomical Anomaly ◽  
First Case ◽  
Midline Cervical Cleft

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.

scholarly journals Midline cervical cleft: a case report

2020 ◽  
Vol 7 (2) ◽  
pp. 552
Author(s):  
Manivannan Dhanraj ◽  
Chetna Ravindra ◽  
Maniselvi Swamidurai ◽  
Kannan Ross
Keyword(s):  
Differential Diagnosis ◽  
Medical Literature ◽  
Sinus Tract ◽  
Rare Entity ◽  
Suprasternal Notch ◽  
Thyroglossal Duct ◽  
Branchial Cleft Anomalies ◽  
Thyroglossal Duct Cysts ◽  
Branchial Cleft ◽  
Midline Cervical Cleft

A 14-year-old boy presented with complaints of a sinus in the middle of neck, with mucoid discharge present since birth. MRI sinogram along with MRI neck was taken which revealed a sinus tract opening in midline, extending posteriorly and traversing inferiorly to end blindly above sternum. Patient was planned for an elective excision of sinus tract, with z-plasty for decreased scarring. Congenital midline cervical cleft is a rare entity that was first described in 1924. Subsequently there have been fewer than 100 cases reported in medical literature. It typically manifests at birth as a cleft at level of suprasternal notch with a pseudonipple above it. Pathogenesis of congenital midline cervical clefts remains speculative. Differential diagnosis includes thyroglossal duct cysts or branchial cleft anomalies. 

Midline Cervical Cleft: A Rare Congenital Anomaly

2009 ◽  
Vol 118 (11) ◽  
pp. 786-790 ◽  
Author(s):  
Gayathri Mandya Renukaswamy ◽  
Marlene A. Soma ◽  
Benjamin E. J. Hartley
Keyword(s):  
Congenital Anomaly ◽  
Rare Congenital Anomaly ◽  
Midline Cervical Cleft

scholarly journals Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

2014 ◽  
Vol 60 (4) ◽  
pp. 160-162
Author(s):  
Liliana Gozar ◽  
Cristina Blesneac ◽  
Rodica Toganel
Keyword(s):  
Congenital Anomaly ◽  
Cytomegalovirus Infection ◽  
Cor Triatriatum ◽  
Anatomical Feature ◽  
Renal Anomalies ◽  
Anatomical Variant ◽  
Case Presentation ◽  
Congenital Cytomegalovirus ◽  
Rare Congenital Anomaly ◽  
Cor Triatriatum Dexter

Abstract Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period. Case report We present the case of a female infant, aged 3 months. Clinical examination reveals cranial and facial anomalies. The karyotype was normal. Laboratory tests revealed the presence of anti-CMV antibodies in urine. Imaging studies showed cerebral and renal anomalies. Echocardiographic exam revealed a congenital anatomical feature without hemodynamic significance - cor triatriatum dexter. Conclusions although cytomegalovirus infection is mostly asymptomatic, it can present as a complex pathological association, in which a congenital cardiac anatomical feature without hemodynamic significance, considered by some authors as an anatomical variant, can appear

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