[Severe pseudoachondroplasia. Presentation of a case].
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.
Silvera-Redondo
C A
CA
Sección de Genética Hospital de Gineco-Obstetricia No.4 Luis Castelazo Ayala, IMSS, México, D.F.
Quiroz Gómez
E
E
Manzano
C
C
Salamanca
F
F
D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index
Pseudoacondroplasia grave. Presentación de un paciente.