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

61 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

Access to Document

10.1002/ajmg.a.30274

Link to publication in Scopus

Fingerprint Dive into the research topics of 'Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome'. Together they form a unique fingerprint.

Cite this

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.

@article{585d3f90bc2d4bef94812484dc2084f3,

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.}",

year = "2005",

month = feb,

day = "1",

doi = "10.1002/ajmg.a.30274",

language = "English",

volume = "132 A",

pages = "381--385",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley & Sons",

number = "4",

}

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

AU - St. Heaps, Luke

AU - Chia, Nicole

AU - Williams, Rebecca

AU - Peters, Gregory B.

AU - Onikul, Ella

AU - McCrossin, Tim

AU - Lehmann, Ordan J.

AU - Adès, Lesley C.

PY - 2005/2/1

Y1 - 2005/2/1

N2 - 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.

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.

KW - 6p25 deletion

KW - Axenfeld-Rieger syndrome

KW - Cerebellar hypoplasia

KW - FOXC1

KW - Pulmonary stenosis

UR - http://www.scopus.com/inward/record.url?scp=19944431348&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30274

DO - 10.1002/ajmg.a.30274

M3 - Article

C2 - 15654696

AN - SCOPUS:19944431348

VL - 132 A

SP - 381

EP - 385

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 4

ER -