Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320290308 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.
Front Public Health
September 2024
Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Article Synopsis
- The study investigates the prevalence of birth defects using data from Hunan Province, China, between 2016-2020, highlighting the need for surveillance to inform preventive measures.
- Data analysis indicated that out of 847,755 births, there were 23,420 birth defects, revealing significant differences in total, perinatal, and livebirth prevalence rates.
- The total prevalence rate was identified as 27.63‰, while perinatal and livebirth prevalence rates were 17.06‰ and 13.52‰ respectively, with significant underestimations of these rates compared to total prevalence.
Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.
Prenat Diagn
October 2024
Henan Provincial Institute of Medical Genetics, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, China.
Article Synopsis
- The study investigates prenatal characteristics of fetuses with 7q11.23 microduplication syndrome and Williams-Beuren syndrome (WBS) to better understand the relationship between their genetic causes and physical traits.
- Researchers analyzed data from 7 fetuses with microduplication syndrome and 16 with WBS, using advanced genetic testing methods and collecting information on their ultrasound features and pregnancy outcomes.
- Findings reveal that both syndromes show significant cardiovascular defects in fetuses, with 7q11.23 microduplication syndrome also exhibiting other specific ultrasound features, indicating a need for more research to clarify these genetic conditions' prenatal markers.
Monosymmetros Cephalothoracopagus Tetrabrachius and Tetrapus Piglets with Syndromic Evolution.
Animals (Basel)
July 2024
Faculty of Veterinary Medicine, University of Life Sciences "King Mihai I" from Timișoara, Calea Aradului 119, 300645 Timișoara, Romania.
Article Synopsis
- The study presents two cases of thoracopagus conjoined twin piglets, both with unique congenital malformations, including features like anencephaly and palatoschisis.
- Case No. 1 shows severe skull and vertebral abnormalities, while Case No. 2 features a bifid root tongue and additional skeletal duplications.
- Both cases highlight the complexity of conjoined twins and contribute to veterinary medicine by increasing awareness of their varied clinical presentations and associated internal organ anomalies.
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
J Community Genet
August 2024
Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.
Article Synopsis
- * The study analyzed data from 13 public and 9 non-public hospitals in Argentina from 2013 to 2020, identifying disparities in the prevalence and detection of certain CAs between these institutions.
- * Findings indicate that public hospitals had a higher prevalence of prenatally diagnosed CAs but lower access to prenatal detection and safe abortion options, reflecting social inequities in healthcare.
Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development.
Fetal Pediatr Pathol
May 2024
Medical Museion, Center for Basic Metabolic Research (CBMR), University of Copenhagen, Copenhagen, Denmark.
Article Synopsis
- The study analyzes five abnormal crania from the Saxtorphian Collection to improve the understanding and diagnosis of cranial malformations in newborns.
- It compares the malformed cranium features, such as occipital encephalocele and holoprosencephaly, with normal cranial development patterns related to neural crest cell migration.
- The findings suggest potential diagnostic benefits by identifying clear distinctions between malformed and non-malformed cranial areas, which can aid in recognizing specific syndromes like Treacher Collins.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!