A syndrome possibly related to
prematernal diabetes, with severe limb and craniofacial malformations
and truncus arteriosus.
CLH Syndrome; Verloove-Vanhorick-Brubakk Syndrome.
One case report of two siblings
exists. Probably autosomal recessive transmission.
Clinical features involve the skeleton
(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), facial deformities (micrognathia, small, low-set, malformed
ears without external meatus, double cleft lip/palate), and the urogenital
tract (malfunctioning horseshoe kidney, 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.
Obtain a full cardiac assessment before
anesthesia. Peripheral venous access may be difficult. Micrognathia and
cleft palate may make airway management difficult.
Maintain spontaneous ventilation until the airway has been secured.
An increased ratio of pulmonary-to-systemic blood flow in truncus may result in severe congestive
heart failure and requires specific anesthetic management. Subacute
bacterial endocarditis prophylaxis may be indicated.
Verloove-Vanhorick SP, Brubakk AM, Ruys JH: Extensive congenital
malformations in two siblings: Maternal pre-diabetes or a new syndrome?
Acta Paediatr Scand