Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

Kenneth Maclean; James Smith; Luke St. Heaps; Nicole Chia; Rebecca Williams; Gregory B. Peters; Ella Onikul; Tim McCrossin; Ordan J. Lehmann; Lesley C. Adès

doi:10.1002/ajmg.a.30274

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

Kenneth Maclean^*, James Smith, Luke St. Heaps, Nicole Chia, Rebecca Williams, Gregory B. Peters, Ella Onikul, Tim McCrossin, Ordan J. Lehmann, Lesley C. Adès

^*Corresponding author for this work

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

62 Citations (Scopus)

Abstract

Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.

Original language	English
Pages (from-to)	381-385
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	132 A
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.30274
Publication status	Published - 1 Feb 2005
Externally published	Yes

Keywords

6p25 deletion
Axenfeld-Rieger syndrome
Cerebellar hypoplasia
FOXC1
Pulmonary stenosis

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10.1002/ajmg.a.30274

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Maclean, Kenneth ; Smith, James ; St. Heaps, Luke ; Chia, Nicole ; Williams, Rebecca ; Peters, Gregory B. ; Onikul, Ella ; McCrossin, Tim ; Lehmann, Ordan J. ; Adès, Lesley C. / Axenfeld-Rieger malformation and distinctive facial features : Clues to a recognizable 6p25 microdeletion syndrome. In: American Journal of Medical Genetics. 2005 ; Vol. 132 A, No. 4. pp. 381-385.

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title = "Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome",

abstract = "Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.",

keywords = "6p25 deletion, Axenfeld-Rieger syndrome, Cerebellar hypoplasia, FOXC1, Pulmonary stenosis",

author = "Kenneth Maclean and James Smith and {St. Heaps}, Luke and Nicole Chia and Rebecca Williams and Peters, {Gregory B.} and Ella Onikul and Tim McCrossin and Lehmann, {Ordan J.} and Ad{\`e}s, {Lesley C.}",

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Axenfeld-Rieger malformation and distinctive facial features : Clues to a recognizable 6p25 microdeletion syndrome. / Maclean, Kenneth; Smith, James; St. Heaps, Luke; Chia, Nicole; Williams, Rebecca; Peters, Gregory B.; Onikul, Ella; McCrossin, Tim; Lehmann, Ordan J.; Adès, Lesley C.

In: American Journal of Medical Genetics, Vol. 132 A, No. 4, 01.02.2005, p. 381-385.

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

TY - JOUR

T1 - Axenfeld-Rieger malformation and distinctive facial features

T2 - Clues to a recognizable 6p25 microdeletion syndrome

AU - Maclean, Kenneth

AU - Smith, James

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AU - Chia, Nicole

AU - Williams, Rebecca

AU - Peters, Gregory B.

AU - Onikul, Ella

AU - McCrossin, Tim

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AU - Adès, Lesley C.

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AB - Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.

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ER -

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

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Keywords

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