This is a report of a case of a rare congenital midline cervical cleft and a description of the surgical approach.

Congenital midline cervical cleft is a very rare developmental anomaly. It represents a failure of the branchial arches to fuse in the midline and presents at birth with a ventral midline defect of the skin of the neck. Associated clinical features could include mandibular spurs, cleft mandible, microgenia, thyroglossal cyst, cleft lip or bronchogenic cysts.

The authors present a case of a midline cervical cleft that was diagnosed and managed at an early age. They discuss the clinical presentation and embryological development of this rare condition. The operative findings, surgical excision and repair of the long vertical defect by Z-plasty are discussed in detail.

The authors report a very satisfactory result following excision and Z-plasty closure of this rare congenital anomaly.

Congenital sinuses arising from the pyriform fossae are rare. They may present as neck cysts, recurrent neck abscesses, thyroiditis or neonatal stridor. Children typically undergo multiple surgical procedures before the diagnosis is made.

We present our recent experience of five third-pouch sinuses and four fourth-pouch sinuses, including one bilateral case. The median age at presentation was four years. The mean number of operations prior to diagnosis was six (range 0-13), with a mean delay to diagnosis of six years. The diagnosis was made by barium swallow, by ultrasound, at pharyngoscopy or at open surgery. The median age at definitive surgery was 10 years. Definitive treatment involved complete excision of the sinus and neck mass in seven cases. Two sinuses were treated with endoscopicdiathermy to their internal opening.

Adoption of the correct nomenclature, diagnostic tools and operative requirements for these cases will help reduce the significant morbidity.

Maldevelopment of the first branchial cleft can produce a broad spectrum of anomalies in its derivative structure, the external auditory canal (EAC). Failure of the cleft to develop normally can result in either the absence of a normally patent EAC (atresia, or stenosis) or a duplication anomaly (cyst, sinus, or fistula). Despite their common origins, the coexistence of these anatomical abnormalities is quite unusual. We present four patients with both aural atresia and duplication anomalies of the EAC. Three patients had non-syndromic unilateral aural atresia and presented with periauricular lesions originating from the first branchial cleft. The other patient had a variant of Treacher Collins syndrome and presented with draining infra-auricular fistulae.

The classification and management of first branchial cleft anomalies is reviewed in light of these cases. An understanding of the embryogenesis of the external ear is necessary to successfully recognize and treat this spectrum of deformities. A classification system is presented that encompasses the full spectrum of first cleft anomalies.

The pharyngeal ‘hairy polyp’, or ‘dermoid’ has caused considerable debate as to its origin since the original classification proposed by Arnold in 1870.1 This classification implies that the hairy polyp is either a teratoma or sequestration dermoid cyst. Many papers contest this view, in favour of a developmental malformation. We describe the first case of a hairy polyp in association with an ipsilateral branchial sinus as further supportive evidence of a developmental malformation of the second branchial arch.

Disorders of the first branchial cleft are rare and often present difficulties in diagnosis. A case is reported that presented with the clinical and histological features of cholesteatoma. The embryology, diagnosis and treatment of branchial arch defects are also reviewed. The case highlights the fact that a high index of suspicion should be aroused for patients with a discharging ear in the presence of an intact tympanic membrane.

The hypothesis that primary branchiogenic carcinoma originates from a branchial cleft cyst is controversial. Many reports regarding primary branchiogenic carcinoma failed to provide sufficient evidence to distinguish it from metastatic cervical lymph nodes arising from previously unrecognized primary tumours. The radiological appearance of malignant transformation from a branchial cleft cyst has not been reported previously in the English literature. A radiological study is presented that confirms the primary branchiogenic carcinoma. The management in suspected cases would be wide surgical excision of the tumour including ipsilateral radical neck dissection followed by radiation therapy.

A case is presented of a rare congenital anomaly of the fourth branchial arch, which presented as an abscess in the anterior triangle, related to a fistula communicating with the pyriform fossa. Histopathological examination showed the fistula to be associated with thyroid tissue supporting the hypothesis that the ventral wing of the fourth pouch contributes to the thyroid gland.

A case of left pyriform sinus fistula in a 20-year-old male is presented. The surgical management of this uncommon condition is discussed. Its embryological and clinical aspects are reviewed.

Lateral cervical fistulae which communicate with the oropharynx are considered to result from incomplete obliteration of the second branchial cleft and pouch. Classically these fistulae have a well-defined pathway through the neck. We present a case, and discuss the aetiology, of a fistula extending from the lateral neck via a previously undescribed course through the neck structures and opening into the posterior aspect of the tongue at the level of the vallate papillae.

Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients (four ears) out of four patients (six ears), exploratory tympanotomy revealed serious ossicular chain anomalies. In one ear, round window aplasia was also present. Long-term hearing improvement could only be achieved in one ear.

Fourth branchial pouch anomalies are rarely reported. A case is described of an isolated branchial cyst which was found to contain ectopic thyroid tissue. This case, together with four others previously reported, support the theory that the thyroid gland may receive contributions from the fourth branchial pouch during development.

Fourth branchial arch fistula is a rare anomaly. This report describes in detail the presentation and management of a fourth arch fistula.

A rare finding of a fourth branchial arch anomaly discovered at laryngectomy is presented. Clinical and histological findings are documented. The incidence and presentation of fourth branchial arch anomalies is discussed.

We present a retrospective study of 106 patients with branchial cleft and pouch anomalies who presented to the Hospital for Sick Children between 1948 and 1990. The relevant embryology of the branchial apparatus is summarized and a theoretical description of individual anomalies given.

Second branchial cleft sinuses were the most common anomalies, and the majority were managed simply, with adequate excision and a low recurrence rate. Five cases of first branchial cleft anomalies are presented, emphasizing the delay in diagnosis, the need for complete excision to prevent recurrence, and for a parotidectomy incision to protect the facial nerve from damage. The two third branchial pouch anomalies presented with a cystic neck swelling, one with recurrent infection and discharge, and the other with stridor. In both, the diagnosis was made at operation. The single fourth branchial pouch cyst was an unexpected finding in a patient with stridor.