Dysmorphic features in patients with complex glycerol kinase deficiency.
Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth. The combination of medical history and characteristic facies should prompt the request for specific laboratory tests diagnostic for this potentially treatable condition.
Scheuerle
A
A
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Greenberg
F
F
McCabe
E R
ER
D000309:Adrenal Insufficiency / Q000151:congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005145:Face / Q000002:abnormalities*; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D013577:Syndrome
D005991:Glycerol Kinase