DYSMORPHIC FEATURES IN PATIENTS WITH COMPLEX GLYCEROL KINASE-DEFICIENCY

Complex glycerol kinase deficiency is a contiguous gene syndrome consi sting of a deletion of the glycerol kinase locus, together with the ge nes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency a nd mildly dysmorphic features similar to those seen in other patients, including an ''hourglass'' appearance of the middle of the face; hype rtelorism; rounded palpebral fissures; esotropia; wide, flattened earl obes; and a downturned mouth. The combination of medical and character istic facies should prompt the request for specific laboratory test di agnostic for this potentially treatable condition.