New subtype of familial achondrogenesis type IA (Houston-Harris).

Autor:	Ramírez-García SA; Universidad de la Sierra Sur, Instituto de Investigaciones sobre la Salud Pública, Sistema de Universidades Estatales de Oaxaca, Miahuatlán de Porfirio Díaz, Oax., México., García-Cruz D; Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Benemérita Universidad de Guadalajara, México., Cervantes-Aragón I; Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Benemérita Universidad de Guadalajara, México., Bitar-Alatorre WE; Traumatología y Ortopedia, Hospital Ángeles del Carmen, México., Dávalos-Rodríguez IP; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jal. México., Dávalos-Rodríguez NO; Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Benemérita Universidad de Guadalajara, México., Corona-Rivera JR; Servicio de Pediatría, Nuevo Hospital Civil Dr. Juan I. Menchaca, México., Sánchez-Corona J; Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jal. México.
Jazyk:	Spanish; Castilian
Zdroj:	Cirugia y cirujanos [Cir Cir] 2018; Vol. 86 (1), pp. 89-98.
DOI:	10.24875/CIRU.M18000008
Abstrakt:	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. (Copyright: © 2018 Permanyer.)
Databáze:	MEDLINE
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