Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of achondrogenesis type I: a case report
INTRODUCTION Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. CASE PRESENTATION The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and 6 days ...
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Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of n...
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Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examina...
متن کاملThe skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects
Inactivating mutations in the ubiquitously expressed membrane trafficking component GMAP-210 (encoded by Trip11) cause achondrogenesis type 1A (ACG1A). ACG1A is surprisingly tissue specific, mainly affecting cartilage development. Bone development is also abnormal, but as chondrogenesis and osteogenesis are closely coupled, this could be a secondary consequence of the cartilage defect. A possib...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2018
ISSN: 1178-704X
DOI: 10.2147/tacg.s157235