[Severe pseudoachondroplasia. Presentation of a case].

Article

[Severe pseudoachondroplasia. Presentation of a case].

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000

Silvera-Redondo C A, Quiroz Gómez E, Manzano C, Salamanca F

Abstract excerpt

A male child who has the clinic and radiologic characteristics of type IV pseudoachondroplasia an autosomal recessive inherited disease, is described. For genetic counselling purposes, the clinic features and differential diagnosis and its classification are discussed.

Topics

Achondroplasia
Child
Humans
Male
Phenotype
Severity of Illness Index

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