New subtype of familial achondrogenesis type IA (Houston-Harris).
作者信息
Ramírez-García Sergio Alberto, García-Cruz Diana, Cervantes-Aragón Iván, Bitar-Alatorre Wadih Emilio, Dávalos-Rodríguez Ingrid Patricia, Dávalos-Rodríguez Nory Omayra, Corona-Rivera Jorge Román, Sánchez-Corona José
机构信息
Universidad de la Sierra Sur, Institute of Public Health Research, Oaxaca State Universities System, Miahuatlán de Porfirio Díaz, Oax. Guadalajara, Jal. México.
Instituto de Genética Humana Dr. Enrique Corona Rivera, Department of Molecular Biology and Genomics, University Center of Health Sciences, Benemérita Universidad de Guadalajara. Guadalajara, Jal. México.
出版信息
Cir Cir. 2019;86(1):81-89. doi: 10.24875/CIRUE.M18000013.
BACKGROUND
Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).
CLINICAL CASE
A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported.
CONCLUSIONS
therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
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