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2008, Number 5

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Rev Mex Pediatr 2008; 75 (5)

Thanatophoric dysplasia type 1. A case report

Islas-Domínguez LP, Cardiel-Marmolejo LE, Pineda-Ochoa M, Hernández-Romero N, Guillén-Montelongo V

Language: Spanish
References: 14
Page: 231-234
PDF size: 98.39 Kb.


ABSTRACT

The thanatophoric dysplasia is a rare disease, hence the importance of this report, which is characterized by macrocephaly, frontal prominence, depressed nasal bridge, narrow chest bell-shaped, pulmonary hypoplasia, rhizomelic shortening of the limbs. In autosomal dominant type, due to disruption of regulatory factor in the growth of fibroblasts. The diagnosis is through prenatal ultrasound. For the chest tightness evolves toward death. There are two types, here reported the case of a newborn with prenatal diagnosis by ultrasound, corroborated by a pathological thanatophoric dysplasia type 1.


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