Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Lesley C. Adès; Roger Davies; Eric A. Haan; Katherine J. Holman; Karen C. Watson; Darsheeka Sreetharan; Cao Shi-Nian; Dianna M. Milewicz; John F. Bateman; Angelo A. Chiodo; Michael Eccles; Les McNoe; Michael Harbord

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Lesley C. Adès, Roger Davies, Eric A. Haan, Katherine J. Holman, Karen C. Watson, Darsheeka Sreetharan, Cao Shi-Nian, Dianna M. Milewicz, John F. Bateman, Angelo A. Chiodo, Michael Eccles, Les McNoe, Michael Harbord

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

17 Citations (Scopus)

Abstract

We describe a 14-year-old male with descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.

Original language	English
Pages (from-to)	269-276
Number of pages	8
Journal	Clinical Dysmorphology
Volume	8
Issue number	4
Publication status	Published - 1999
Externally published	Yes

Keywords

Aortic dissection
Brachytelephalangy
Iris dysplasia

Cite this

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title = "Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent",

abstract = "We describe a 14-year-old male with descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.",

keywords = "Aortic dissection, Brachytelephalangy, Iris dysplasia",

author = "Ad{\`e}s, {Lesley C.} and Roger Davies and Haan, {Eric A.} and Holman, {Katherine J.} and Watson, {Karen C.} and Darsheeka Sreetharan and Cao Shi-Nian and Milewicz, {Dianna M.} and Bateman, {John F.} and Chiodo, {Angelo A.} and Michael Eccles and Les McNoe and Michael Harbord",

year = "1999",

language = "English",

volume = "8",

pages = "269--276",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

number = "4",

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TY - JOUR

T1 - Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

AU - Adès, Lesley C.

AU - Davies, Roger

AU - Haan, Eric A.

AU - Holman, Katherine J.

AU - Watson, Karen C.

AU - Sreetharan, Darsheeka

AU - Shi-Nian, Cao

AU - Milewicz, Dianna M.

AU - Bateman, John F.

AU - Chiodo, Angelo A.

AU - Eccles, Michael

AU - McNoe, Les

AU - Harbord, Michael

PY - 1999

Y1 - 1999

N2 - We describe a 14-year-old male with descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.

AB - We describe a 14-year-old male with descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.

KW - Aortic dissection

KW - Brachytelephalangy

KW - Iris dysplasia

UR - http://www.scopus.com/inward/record.url?scp=0032722616&partnerID=8YFLogxK

M3 - Article

C2 - 10532176

AN - SCOPUS:0032722616

VL - 8

SP - 269

EP - 276

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 4

ER -

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Abstract

Keywords

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