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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 70:767, 1981.  [PubMed: 7324930]

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