Article

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 11/2008; 146A(21):2799-803. DOI: 10.1002/ajmg.a.32489
Source: PubMed

ABSTRACT Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.

0 Followers
 · 
252 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Amelia and Meromelia may either present as an isolated defect or associated with other malformations; and the diagnosis is mainly clinical. The antenatal period of the case presented here was medically unsupervised but uneventful. The baby had bilateral upper limb Meromelia and bilateral lower limb Amelia along with a small ostium secundum atrial septal defect. Except for the young age of mother, there was no other obvious risk factor in this case. The baby had a normal and healthy neonatal outcome whereas most such cases are either stillborn or end in early neonatal death.
    Fetal and pediatric pathology 12/2013; DOI:10.3109/15513815.2013.864348 · 0.40 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Tetra-amelia Syndrome is a very rare autosomal genetic disorder characterized by the complete absence of all extremities with associated anomalies. Anesthetic management of these patients may be challenging, including problems with vascular access, lack of sites available to monitor blood pressure and possible difficult airway. We describe the anesthetic management of a 5 month-old with Tetra-amelia Syndrome. The problems and options in obtaining intravenous access, securing the airway and monitoring vital signs during the procedure are discussed. The use of near infrared spectroscopy for hemodynamic monitoring is described to estimate adequate organ perfusion when blood pressure measurement is not practical.
  • [Show abstract] [Hide abstract]
    ABSTRACT: This review focuses predominantly on the human congenital malformations caused by alterations affecting the morphoregulatory gene networks that control early limb bud patterning and outgrowth. Limb defects are among the most frequent congenital malformations in humans that are caused by genetic mutations or teratogenic effects resulting either in abnormal, loss of, or additional skeletal elements. Spontaneous and engineered mouse models have been used to identify and study the molecular alterations and disrupted gene networks that underlie human congenital limb malformations. More recently, mouse genetics has begun to reveal the alterations that affect the often-large cis-regulatory landscapes that control gene expression in limb buds and cause devastating effects on limb bud development. These findings have paved the way to identifying mutations in cis-regulatory regions as causal to an increasing number of congenital limb malformations in humans. In these cases, no mutations in the coding region of a presumed candidate were previously detected. This review highlights how the current understanding of the molecular gene networks and interactions that control mouse limb bud development provides insight into the etiology of human congenital limb malformations. WIREs Dev Biol 2012 doi: 10.1002/wdev.59 For further resources related to this article, please visit the WIREs website.
    11/2012; 1(6):803-822. DOI:10.1002/wdev.59

Full-text (2 Sources)

Download
134 Downloads
Available from
May 21, 2014