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The cause is usually a developmental abnormality arising in the early prenatal period, typically failure of obliteration of the second, third, and fourth branchial cleft, i.e. failure of fusion of the second branchial arches and epicardial ridge in lower part of the neck.
Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. This and other ear malformations are sometimes associated with renal anomalies. [11] In rare circumstances these pits may be seen in genetic conditions such as branchio-oto-renal syndrome ; however these conditions are always concurrent ...
Lymphangioma [1] Specialty. Oncology, medical genetics. A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the fetus is still in the uterus, but can also appear after birth.
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids , preauricular skin tags and strabismus . [1]
Alternative diagnoses for CCRN consist of thyroglossal duct cyst, hair follicle naevus, fibroepithelial polyp, and branchial cleft cyst. Thyroglossal duct cysts are typically found in the midline of the neck, near the hyoid bone , and move with tongue protrusion or swallowing. [7]
If severe, it may result in difficulties in breathing due to obstruction of the trachea —sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate. [1]
Cervical sinus. The cervical sinus is a structure formed during embryonic development. It is a deep depression found on each side of the neck. It is formed as the second pharyngeal arch (hyoid arch) grows faster than the other pharyngeal arches, so they become covered. The first pharyngeal arch (mandibular arch) also grows slightly faster.
Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
Some cervical thymic cysts may extend into the mediastinum. It is usually asymptomatic. The diagnostic process includes differentiating between other causes of neck masses in infants and children, including branchial cleft cysts and cystic hygromas. The treatment is surgical excision.
Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections.