Dysmorphic features in patients with complex glycerol kinase deficiency

Angela Scheuerle, Frank Greenberg, Edward R B McCabe

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

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. (J P EDIATR 1995; 126:764-7).

Original languageEnglish (US)
Pages (from-to)764-767
Number of pages4
JournalThe Journal of Pediatrics
Volume126
Issue number5
DOIs
StatePublished - May 1995

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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