Branchial clefts with characteristic facies- growth retardation- imperforate nasolacrimal duct
Overview
Branchooculofacial syndrome (BOFS) is a rare condition characterized by a distinct phenotype of branchial cleft, thick and narrow philtrum resembling a pseudocleft of the upper lip, nasolacrimal duct obstruction, linear skin lesions behind the ears, proliferation of blood vessels in the lower neck, characteristic facies, and premature senility. Affected individuals have malformed ears with posteriorly angulated pinna, thin helix, prominent antihelix, upturned lobules, and auricular pits. The nose is dysplastic, with a wide bridge and indented tip. Ocular abnormalities include microphthalmia or anophthalmia, hypertelorism, coloboma, strabismus, and cataract. Growth and occasional mental retardation is also seen in patients. (branchial cleft cyst), softtissue cyst usually seen on the lateral side of the neck, arising from epithelial illusions within the cervical lymph nodes. Microscopic examination shows the epithelial lining of stratified squamous epithelium surrounded by lymphoid tissue. Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
Symptoms
Mental retardation Prenatal growth deficiency Postnatal growth deficiency Low birth weight Atrophic branchial skin lesion
Diagnosis
The phrase "signs of Branchio-Oculo-Facial Syndrome" should, strictly speaking, refer only to those signs and symptoms of Branchio-Oculo-Facial Syndrome that are not readily apparent to the patient.