++
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.
++
++
++
++
++
Hallerman-Streiff-François Syndrome; François
Dyscephalic (or dyscephaly) Syndrome; François Syndrome;
Oculomandibulofacial Syndrome; Oculo-Mandibulo-Dyscephaly-Hypotrichosis
Syndrome; Ullrich-Fremerey-Dohna 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.
++
Anesthesia consultation is highly
recommended prior to elective surgical procedures. Evaluation for difficult
direct laryngoscopy and tracheal intubation because of hypoplasia of the
mandible (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 ...