Search PubMed⌕ Search

PubMed · 3799218

Perinatal postmortem radiography.

Abstract

Despite the heterogeneous nature of congenital defects, an increasing number of aetiologically specific entities are being delineated, which is partly due to the increasing use of radiology. Data concerning the aetiology are especially important to the parents, who need information on the risk of recurrence for future pregnancies. During 1980-1982 a postmortem radiologic investigation was carried out on 514 perinatally dead infants from 22 hospitals in Finland. Pathologic radiologic findings were seen in 30 per cent of the material. Ninety-nine cases had congenital defects, while the rest showed other skeletal or soft tissue abnormalities. Of those with congenital defects, there were 6 osteochondrodysplasias, 16 chromosomal malformation syndromes, 13 autosomal recessive inherited malformation syndromes and 18 multiple malformation syndromes of unknown aetiology. There were also 18 cases with malformation sequences and 10 single malformations with abnormal radiologic findings. Congenital defects due to disruptions were detected in 12 cases and defects due to deformations in 7. The present article includes a review of the radiologic findings in 514 cases, with special reference to the skeletal findings.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

U Seppänen. Perinatal postmortem radiography.. https://doi.org/10.1177/028418518602700501

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

The ultimate challenge of cloacal exstrophy.

PURPOSE: Our review addresses the various system abnormalities associated with cloacal exstrophy and revisits the question of gender assignment. Gender assignment decisions and psychological aspects of gender issues have become the "ultimate challenge." Exploration of gender identity, gender role behavior and sexual orientation has just begun. MATERIALS AND METHODS: A comprehensive literature review was performed with all world literature regarding the current management of cloacal exstrophy. Research focused on management principles, outcomes and documentation of concurrent anomalies. We also describe original research evaluating gender identity in our own series of patients raised as girls to illustrate the challenge of treatment and augment the available literature, which is scant. RESULTS: Abnormalities of the vertebral column ranged from hemivertebra to myelomeningocele. With magnetic resonance imaging, the incidence of spinal dysraphism approached 100% and cord tethering was also more frequently recognized. For children with the short bowel syndrome, advances in antibiotic usage, and parenteral and enteral nutrition have increased the survival rate and reduced morbidity. A neurological component has been recognized for bladder function, bladder neck continence, lower extremity function and erectile capacity. Mitrofanoff-type reconstruction with bladder neck closure and continent catheterizable stoma dramatically increased continence. Diminutive or absent penis has been documented in 30% of males, and no documentation of paternity exists. The majority of females have bicornuate uterus. However, ovaries and tubes were generally normal. No reports of proven fertility exist. CONCLUSIONS: The strategy and timing of surgery relating to gender assignment remain controversial. A desperate need exists for research focusing on gender development and quality of life. Until that time, a cautious watchful approach may be most appropriate as our patients with cloacal exstrophy mature into adulthood.

Abnormalities, Multiple↗

Phenotyping transgenic embryos: a rapid 3-D screening method based on episcopic fluorescence image capturing.

We describe a technique suitable for routine three-dimensional (3-D) analysis of mouse embryos that is based on episcopic fluorescence images captured during serial sectioning of wax-embedded specimens. We have used this procedure to describe the cardiac phenotype and associated blood vessels of trisomic 16 (Ts16) and Cited2-null mutant mice, as well as the expression pattern of an Myf5 enhancer/beta-galactosidase transgene. The consistency of the images and their precise alignment are ideally suited for 3-D analysis using video animations, virtual resectioning or commercial 3-D reconstruction software packages. Episcopic fluorescence image capturing (EFIC) provides a simple and powerful tool for analyzing embryo and organ morphology in normal and transgenic embryos.

Abnormalities, Multiple↗

Another TWIST on Baller-Gerold syndrome.

Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, Central Nervous System (CNS), and urogenital anomalies. Baller-Gerold syndrome is thought to have autosomal recessive inheritance. However, Gripp et al. [1999: Am. J. Med. Genet. 82:170-176] recently provided the first evidence for autosomal dominant inheritance with variable expressivity and severity. A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous parents, with synostosis of the coronal, metopic, and sagittal sutures, and bilateral radial ray hypoplasia. The patient's small, round ears with prominent crus helices, and cervical anomalies are common features of SCS. The father had very mild features of SCS. We identify direct paternal transmission of a novel missense TWIST mutation in the highly conserved Helix II domain of this bHLH-family gene. This report lends further support to the recent findings by Gripp et al. [1999]. Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller-Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS.

Abnormalities, Multiple↗