Dysmorphic features in patients with complex glycerol kinase deficiency

Angela Scheuerle; Frank Greenberg; Edward R B McCabe

doi:10.1016/S0022-3476(95)70409-4

Dysmorphic features in patients with complex glycerol kinase deficiency

Angela Scheuerle, Frank Greenberg, Edward R B McCabe

Research output: Contribution to journal › Article › peer-review

23 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 language	English (US)
Pages (from-to)	764-767
Number of pages	4
Journal	The Journal of pediatrics
Volume	126
Issue number	5
DOIs	https://doi.org/10.1016/S0022-3476(95)70409-4
State	Published - May 1995

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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title = "Dysmorphic features in patients with complex glycerol kinase deficiency",

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).",

author = "Angela Scheuerle and Frank Greenberg and McCabe, {Edward R B}",

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AU - Scheuerle, Angela

AU - Greenberg, Frank

AU - McCabe, Edward R B

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N2 - 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).

AB - 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).

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Dysmorphic features in patients with complex glycerol kinase deficiency

Abstract

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