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Inherited malformative syndrome characterized by low birth weight, distinctive craniofacial malformations, and atrophic skin lesion.

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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.

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Autosomal dominant.

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Unknown.

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Based on the clinical findings of typical face associated with growth retardation.

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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.

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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.

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Mask ventilation and endotracheal intubation should expected to be difficult and an adapted anesthetic management may be required.

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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 11:345, 1982.  [PubMed: 7200726]
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 91:387, 2000.  [PubMed: 10767004]
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 39:71, 2002.  [PubMed: 11826031]

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