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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Sirenomelia: a rare presentation.

K Ramesh Reddy1, S Srinivas1, Shiva Kumar1

  • 1Niloufer Hospital, Institute of Child Health, Osmania Medical College, Hyderabad, A.P, India.

Journal of Neonatal Surgery
|May 30, 2015
PubMed
Summary
This summary is machine-generated.

Sirenomelia, or Mermaid Syndrome, is a severe form of caudal regression syndrome. This condition involves fused lower limbs and significant anomalies, with one case surviving 12 days post-birth.

Keywords:
Caudal regression syndromeMermaid syndromeSirenomelia

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Sirenomelia, a severe manifestation of caudal regression syndrome, presents with characteristic lower limb fusion, sacral/pelvic anomalies, absent genitalia, imperforate anus, and renal agenesis.
  • Approximately 300 cases are documented, with 15% linked to monozygotic twinning.

Observation:

  • Two cases of Sirenomelia are presented: one live birth and one stillbirth.
  • The live-born infant exhibited fused lower limbs, high anorectal anomaly, genital anomalies, and a horseshoe kidney, surviving for 12 days.
  • The stillborn infant underwent autopsy, providing further data on the syndrome's pathology.

Findings:

  • Sirenomelia results from early gestational injury to the caudal mesoderm.
  • The live-born case demonstrated a unique high anorectal malformation and renal anomaly.
  • Autopsy findings in the stillborn case contribute to understanding the spectrum of Sirenomelia.

Implications:

  • These cases highlight the critical early developmental origins of Sirenomelia.
  • Understanding the etiology and presentation is crucial for prenatal diagnosis and management.
  • Further research into caudal mesoderm development may reveal therapeutic targets for related congenital anomalies.