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2020, Number 02

MediSan 2020; 24 (02)

Tetra-amelia syndrome: a case report

Marino MDL, Álvarez LM
Full text How to cite this article

Language: English
References: 9
Page: 263-267
PDF size: 600.31 Kb.


Key words:

tetra-amelia syndrome, still born, genetic disorders, malformations.

ABSTRACT

A still born male baby with tetra-amelia syndrome is reported, with craniofacial abnormalities and pulmonary agenesis. It presented complete absence of all four limbs in association with cleft lip and palate on the right side. The mother medical history revealed no remarkable details. The fetus died shortly after its birth. The embryonic correlation of the case is discussed. Proper health education, antenatal screening and genetic counseling can reduce the risk of such congenital anomalies.


REFERENCES

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  7. Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, et al. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004;74:558–63.

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MediSan. 2020;24