Genetic polymalformative dysostotic syndrome characterized by distinctive craniofacial malformations including brachycephaly, bird-like facies with “parrot-beaked” nose, hypoplastic mandible, hypotrichosis, ocular abnormalities (congenital cataracts, microphthalmia), dental defects, skin atrophy (scalp and nasal area), severe tracheomalacia, and dwarfism. The presence of mandibular hypoplasia and microstomia may result in difficult tracheal intubation which will require preoperative preparation.
Hallermann-Streiff-François Syndrome; François Dyscephalic (or dyscephaly) Syndrome; François Syndrome; Oculomandibulofacial Syndrome; Oculo-Mandibulo-Dyscephaly-Hypotrichosis Syndrome; Ullrich-Fremerey-Dohna Syndrome; Aubry Syndrome.
Rare; 70 cases reported in the literature.
Most cases have been sporadic (but with high frequency of parental consanguinity) with no sex predilection. Autosomal recessive and dominant forms have been reported.
Based on clinical features and clinical course. Radiographic examination of the temporomandibular joints shows a characteristic change.
The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract. The cornea is small (diameter <11 mm) and coloboma is common, confirming the early disturbance of eye development. Hypoplastic mandible, high-arched palate, microstomia, glossoptosis, natal teeth (inconstant), and hypodontia with malformed teeth contribute to the recognizable facial features of the patients. Proportionate dwarfism, hypotrichosis, skin atrophy, hypoplastic clavicles and ribs, and daytime hypersomnolence are usual. Mental retardation is observed in 15% of patients. Because of a narrow upper airway and most often associated tracheomalacia, there is a danger of upper airway obstruction, particularly during the neonatal period and infancy. Obstruction may be a result of small nares and glossoptosis secondary to micrognathia, which may result in cor pulmonale. Tracheomalacia is a frequent complication that can lead to chronic respiratory insufficiency (subsequent biventricular cardiac failure and death has been reported in a 6-month-old infant). Sleep apnea is common in these patients.
Hallermann-Streiff Syndrome: Airway obstruction secondary to small nares, glossoptosis, hypoplastic mandible, and tracheomalacia resulted in chronic respiratory failure, which required tracheotomy in this infant with Hallermann-Streiff Syndrome.
Precautions before anesthesia
Anesthesia consultation is highly recommended prior to elective surgical procedures. In the presence of hypoplasia of the mandible, a proper airway evaluation must be conducted to plan the airway management in view of a difficult direct laryngoscopy and tracheal intubation. The use of fiberscope may be required, and nasotracheal intubation may be difficult because of the small nares. Management of the airway is expected to be difficult because of anatomical factors. Physical examination is directed primarily toward the central nervous system, cardiovascular system (cor pulmonale), lungs, and upper airway (tracheomalacia). Echocardiography is indicated. Standard preoperative laboratory examinations are appropriate in most patients (blood chemistries, blood group, hemoglobin, and coagulation).
Airway management represents the most significant anesthetic consideration. Maintenance of spontaneous respiration is highly recommended until the airway has been secured. Alternative airway management technique (eg, fiberoptic, retrograde intubating technique, etc.) must be available. A laryngeal mask might be useful, but the presence of severe microstomia may prevent its insertion. The potential for cardiovascular involvement and pulmonary hypertension must be accounted. Postoperative mechanical ventilation may be required.
All pharmacological considerations are not specific but rather determined by associated condition.
Other condition to be considered
☞Oculodentodigital Syndrome: Characterized by ocular abnormalities (microcorneas, microphthalmos, glaucoma, optic atrophy, short palpebral fissures), dental defects, craniofacial dysmorphism, many skeletal anomalies (including hand and foot malformations), and mild mental retardation.