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

Sergio Alberto Ramírez-García; Diana García-Cruz; Iván Cervantes-Aragón; Wadih Emilio Bitar-Alatorre; Ingrid Patricia Dávalos-Rodríguez; Nory Omayra Dávalos- Rodríguez; Jorge Román Corona-Rivera; José Sánchez-Corona

2018, Number 1

Cir Cir 2018; 86 (1)

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

Ramírez-García SA, García-Cruz D, Cervantes-Aragón I, Bitar-Alatorre WE, Dávalos-Rodríguez IP, Dávalos-Rodríguez NO, Corona-Rivera JR, Sánchez-Corona J

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ABSTRACT

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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