摘要:

We describe two patients, a 19‐year‐old girl and a 19‐year‐old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures ‐ clinical manifestations of long survivors with mosaic or non‐mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non‐mosaic trisomy 18 for pigmenta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02988.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Persistent truncus arteriosus (TA) is an uncommon congenital cardiovascular malformation, which comprises between 0.4% and 4% of all congenital heart defects. Occurrence of TA in siblings has been reported infrequently. Twins concordant for isolated TA appear to have been reported only once previously. In this paper, we describe dizygotic twin females who were concordant for isolated TA.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02989.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02990.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY