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",

publisher = "Lippincott Williams \& Wilkins",

number = "4",

}

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 - https://www.scopus.com/pages/publications/0032722616

M3 - Article

C2 - 10532176

AN - SCOPUS:0032722616

SN - 0962-8827

VL - 8

SP - 269

EP - 276

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 4

ER -

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

Abstract

Keywords

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