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

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:...

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Bibliographic Details
Published inCirugia y cirujanos Vol. 86; no. 1; p. 89
Main Authors 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
Format Journal Article
LanguageSpanish
Published Mexico 2018
Subjects
Abnormalities, Multiple - genetics
Achondroplasia - classification
Achondroplasia - diagnostic imaging
Achondroplasia - genetics
Achondroplasia - pathology
Cartilage - pathology
Fatal Outcome
Female
Femur - pathology
Germ-Line Mutation
Humans
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases - classification
Infant, Premature, Diseases - diagnostic imaging
Infant, Premature, Diseases - genetics
Infant, Premature, Diseases - pathology
Pedigree
Phenotype
Polyhydramnios - etiology
Pregnancy
Acondrogénesis tipo 1A
Displasia esquelética
Achondrogenesis type 1A
Germinal mutation
Mutación germinal
Skeletal dysplasia
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Summary: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). 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. therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
ISSN:2444-054X