Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978. It is becoming clear that this condition has certain radiological and histological characteristics that distinguish it from other skeletal dysplasias. We herein present
Triple trisomy in a 17-week-old fetus
β Scribed by Mark J. Pettenati; Nagesh Rao
- Book ID
- 104662682
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 298 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A u t o s o m a l trisomies account for the m a j o r i t y of c h r o m o s o m e a b n o r m a l i t i e s associated with spontaneous miscarriages. Occasionally, d o u b l e a u t o s o m a l trisomies are found to be p r e s e n t in abortuses. This r e p o r t describes the second o c c u r r e n c e of triple trisomy associa t e d with fetal demise.
π SIMILAR VOLUMES
Although the cause in most cases is unknown, there is a strong association of the femoral facial syndrome (FFS) with maternal diabetes mellitus. We describe an unusual presentation of FFS in the first pregnancy of a diabetic mother terminated at 19 weeks gestation because of bilateral femoral agenes
In a recent report of chromosome analysis of a 17-week fetus, triple trisomy was found, i.e. 4 9 , X X X , + 5 , + 1 3 (Pettenati and Rao 1991). The authors comment on the rarity of this event since they found only one other reference to such a finding in an abortus with 49,XX,+2, + 5 , + 8 (Kajii e
## Abstract Trisomy 18 is the secondβmost common autosomal trisomy and represents one third of the chromosomal trisomies identified prenatally. We present a case of a fetus with trisomy 18 in which thoracoabdominal ectopia cordis was detected prenatally; it was noted as a dominant defect on a sonog