Less than 10 patients of both sexes have been reported, most of them from Brazil.
Based on normal chromosomes, familial occurrence, and parental consanguinity, autosomal recessive inheritance is most likely, although insufficient genetic background information and molecular data are available.
Birth weight and length are usually normal. However, the diagnosis can be suspected based on the anomalies involving the facial midline, central nervous system, and multiple skeletal sites.
All reported patients suffer from severe mental retardation. Facial anomalies include brachycephaly, wide forehead with widow’s peak, abnormally low anterior and posterior hairline, abnormal eyelashes and eyebrows, “S”-shaped palpebral fissures, hypertelorism, coloboma, ptosis, strabismus, malar and midface hypoplasia, broad and notched nasal tip, cleft lip/palate, macrostomia, and mild microretrognathia. The auricles are anteverted with prominent tragus and lobule and triangular-shaped conchae. Upper extremity anomalies can consist of bilateral postaxial polysyndactyly, brachymetacarpia of fingers 1-5, camptodactyly of fingers 2-5, and hypoplastic distal phalanges. Pelvic and lower extremity anomalies include iliac hypoplasia, coxa valga, flat and dysplastic acetabulum with hip dislocation, mesomelic shortness of the legs (ie, tibia and fibula) with fibular hypoplasia and broad, abnormally modeled distal tibiofibular epiphyses, tibiotalar luxation, and clubfeet. The metatarsals appear broad and short and the phalanges of the toes are hypoplastic. Glaucoma, hypospadias, and cryptorchidism have been described sporadically.
Precautions before anesthesia
Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. These patients are not known to have other physical problems than those stated above. Evaluate for difficult airway management.
There are no published reports concerning anesthetic implications in this syndrome. Difficult airway management should be expected. Positioning in general and for airway management in particular (“sniffing” or “chin to win” position) may be difficult and the facial anomalies may not only render direct laryngoscopy and intubation, but also facemask ventilation difficult. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope), and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Awake fiberoptic intubation should be considered. The use of (ideally ultrasound-guided) regional anesthesia should be considered where appropriate, although both, patient cooperation and anatomy could be challenging. Peripheral intravenous access may be difficult given the malformations of hands and feet. The same is probably true for positioning, which requires special attention and careful padding to avoid pressure sores. One patient died from postoperative surgical complications at 16 months of age, but no details were given.