A syndrome of familial pelvic and scapular dysplasia, dwarfism, anomalies of the epiphyses, and dysmorphism.
First described in a North African boy and his sister, whose parents were healthy first cousins. Less than 10 patients have been reported.
Most likely autosomal recessive inheritance. The disorder may be caused by mutations in the T-BOX 15 gene that has been mapped to chromosome 1p12.
Based on the clinical findings.
These patients may be of normal intelligence or have moderate psychomotor delay. Craniofacial dysmorphism is characterized by macrocephaly, frontal bossing, abnormally shaped skull base with caudal elongation of the occipital bone, low-set, dysplastic and posteriorly angulated ears with stenotic ear canals, short and narrow palpebral fissures, deep set eyes with microphthalmia and microcornea, hypertelorism, strabismus, malar hypoplasia, micrognathia, cleft palate, hypoglossia, redundant nuchal skin-folds, and low-posterior hairline. Skeletal anomalies may include severe congenital dwarfism (rhizomelic micromelia), short neck, bell-shaped chest, hypoplasia or agenesis of the scapular wings, humeroradial synostosis with fixed flexion in the elbows, brachy- and camptodactyly, hypoplasia of the iliac and acetabular wings, short legs secondary to bilateral hip dislocations and moderate shortening of the long bones (femora), absent fibulae, and talipes equinovarus. Other possible anomalies may include impaired hearing, hydronephrosis, ambiguous genitalia, and occasionally syndactyly. A cutaneous cervical diverticulum was described in one patient.
Precautions before anesthesia
Assess for signs of difficult airway management including range of motion in the cervical spine. Developmental delay in combination with hearing loss 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.
Anesthesia in this disorder has not been described. Depending on the degree of dysmorphism, difficult airway management should be expected, thus maintaining 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. Alternatively, an awake fiberoptic intubation should be considered. The anesthetic management may have to take increased intracranial pressure (ICP) into consideration and aim at maintaining an appropriate cerebral perfusion pressure while at the same time avoiding further increases in ICP (eg, hypercapnia), and prevent seizures and hyperthermia. Careful intraoperative handling, positioning, and padding are required to avoid joint dislocations, pressure sores, and/or nerve injury. Mental retardation may affect patient cooperation. Sedative and/or anxiolytic premedication and/or the presence of the primary caregiver during induction of anesthesia may be ...