A syndrome possibly related to prematernal diabetes, with severe limb and craniofacial malformations and truncus arteriosus.
CLH Syndrome; Verloove–Vanhorick-Brubakk-Ruys Syndrome.
One case report of two siblings exists.
Probably autosomal recessive transmission.
The skeletal features may consist of deformities of both lower and upper limbs, short humeri and femora, tapering of the proximal femur with absence of the femoral head, deformed acetabula, lumbosacral spine deformation with four lumbar vertebral bodies, absence of the coccygeal bone and the calcaneus, absence of one metatarsal and metacarpal bone in both feet and hands with partial syndactyly of toes and fingers. The facial deformities are characterized by micrognathia, small, low-set and malformed ears without external meatus, and double cleft lip/palate. Urogenital anomalies include malfunctioning horseshoe kidney and cryptorchidism. Other abnormalities include truncus arteriosus, bilateral bilobular lungs, and parathyroid aplasia. Both siblings had almost identical malformations, including the truncus arteriosus, and both died in the neonatal period.
Precautions before anesthesia
Assess for signs of difficult airway management. Obtain a full cardiac assessment before anesthesia. Echocardiography is required to delineate the exact anatomy/type of truncus arteriosus. Check the lumbar and sacrococcygeal spine if a central neuraxial anesthesia technique (including caudal block) is considered.
Micrognathia and cleft palate may make airway management difficult, thus 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. Alternatively, an awake fiberoptic intubation should be considered. Peripheral venous access may be difficult. An increased ratio of pulmonary-to-systemic blood flow (QP:QS) in truncus arteriosus may result in severe congestive heart failure and requires specific anesthetic management. Meticulous attention should be paid to avoid air bubbles in infusion-lines in patients with right-to-left shunts. Subacute bacterial endocarditis prophylaxis may be indicated.
None specific to this syndrome.
JH: Extensive congenital malformations in two siblings: Maternal prediabetes or a new syndrome? Acta Paediatr Scand