Inherited malformative syndrome characterized by
low birth weight, distinctive craniofacial malformations, and atrophic skin
BOF Syndrome; BOFS; Hemangiomatous Branchial Cleft-Lip
Pseudocleft Syndrome; Imperforate Nasolacrimal Duct and Premature Aging
Syndrome; Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome; Branchial
Clefts with Characteristic Facies, Growth Retardation, Imperforate
Nasolacrimal Duct, and Premature Aging; Lee-Root-Fenske Syndrome.
Based on the clinical findings of typical face associated with
Features of this disorder involve the head (microcephaly, small forehead,
micrognathia, malar hypoplasia, broad or divided nasal tip, depressed nasal bridge, short nasal septum, cleft lip and palate,
lip pits, dental abnormalities), the ears (microtic, low-set and/or posteriorly rotated, overfolded with hypoplastic superior
helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear
ossicles), the eyes (hypertelorism, ptosis, upslanting palpebral fissures, strabismus, telecanthus, microphthalmia,
anophthalmia, iris and retinal coloboma, cataract, lacrimal duct obstruction, myopia), the kidneys (renal agenesis, cystic
kidney disease), the skeleton (kyphosis, hyperlordosis, hypoplastic thumbs, polydactyly, clinodactyly), the skin (aplasia
cutis congenita, subcutaneous scalp cysts, hemangiomatous branchial clefts, supernumerary nipples, hypoplastic fingernails,
premature graying of hair) and the central nervous system (mild mental retardation, agenesis of cerebellar vermis). Postnatal
growth deficiency is present in approximately 50% of cases.
Evaluate for signs of difficult airway management (clinic, radiography). Assess renal function
(clinically, ultrasound, laboratory). Mental retardation and impaired hearing may limit patient cooperation. Sedative and/or
anxiolytic premedication as well as the presence of the primary care-giver for induction of anesthesia may be helpful.
Mask ventilation and endotracheal intubation should expected to be difficult and an adapted
anesthetic management may be required.
Intraoperative fluid regimen and anesthetic drug choice should be adapted to renal
function. Maintain spontaneous ventilation until the airway has been secured.
Lee WK, Root AW, Fenske N: Bilateral branchial cleft sinuses associated
with intrauterine and postnatal growth retardation, premature aging, and
unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet
Lin AE, Semina EV, Daack-Hirsch S, et al: Exclusion of the
branchio-oto-renal syndrome locus (EYA1) from patients with
branchio-oculo-facial syndrome. Am J MedGenet
Trummer T, Muller D, Schulze A et al: Branchio-oculo-facial syndrome and
branchio-otic/branchio-oto-renal syndromes are distinct entities. J Med Genet