scholarly journals Achondrogenesis type 1B.

1996 ◽  
Vol 33 (11) ◽  
pp. 957-961 ◽  
Author(s):  
A Superti-Furga
Keyword(s):  
Achondrogenesis Type

Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation

1993 ◽  
Vol 13 (6) ◽  
pp. 523-528 ◽  
Author(s):  
P. W. Soothill ◽  
C. Vuthiwong ◽  
H. Rees
Keyword(s):  
Transvaginal Ultrasound ◽  
Achondrogenesis Type

Achondrogenesis

2007 ◽  
Vol 10 (4) ◽  
pp. 253-255 ◽  
Author(s):  
Raj P. Kapur
Keyword(s):  
Cartilage Matrix ◽  
Genotypic Differences ◽  
Skeletal Dysplasias ◽  
Type Ia ◽  
Achondrogenesis Type ◽  
Insight Into ◽  
Developmental Pathology

In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA [ 1 ]. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.

scholarly journals Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Wenbo Wang ◽  
Qichang Wu ◽  
Li Sun ◽  
Xiaohong Zhong ◽  
Yasong Xu ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Final Diagnosis ◽  
Definitive Diagnosis ◽  
Causative Mutation ◽  
Radiographic Examination ◽  
Type Ii ◽  
Molecular Genetic Testing ◽  
Multidisciplinary Assessment ◽  
Ultrasound Evaluation ◽  
Achondrogenesis Type

Aim. Achondrogenesis type II is a rare, lethal osteochondrodysplasia with considerable phenotypic heterogeneity. We describe our experience in diagnosing prenatal-onset achondrogenesis type II by a multidisciplinary assessment. Methods. Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL2A1. Results. A causative mutation in the COL2A1 gene was found in both patients. Combined with postnatal radiographic examination, the final diagnosis of achondrogenesis type II was made. Conclusion. Our findings emphasize the importance of a multidisciplinary assessment for the definitive diagnosis of achondrogenesis type II, which is paramount for proper genetic counseling.

Achondrogenesis: A review with special consideration of achondrogenesis type II (langer-saldino)

1981 ◽  
Vol 10 (4) ◽  
pp. 379-394 ◽  
Author(s):  
Harold Chen ◽  
Charlotte T. Liu ◽  
S. Samuel Yang ◽  
John M. Opitz
Keyword(s):  
Special Consideration ◽  
Type Ii ◽  
Achondrogenesis Type

A case of achondrogenesis type I

1984 ◽  
Vol 67 (3) ◽  
pp. 349-350
Author(s):  
I?ik B�kesoy ◽  
Engin Aydin ◽  
Sacide Gazilerli
Keyword(s):  
Type I ◽  
Achondrogenesis Type

scholarly journals A case report of prenatally detected achondrogenesis type II with an occipital cephalocele

2017 ◽  
Vol 6 (5) ◽  
pp. 238
Author(s):  
MohamadAli Kazemi ◽  
Behnaz Moradi ◽  
Khadijeh Adabi ◽  
FarzanehFattahi Masrour
Keyword(s):  
Case Report ◽  
Type Ii ◽  
Achondrogenesis Type

scholarly journals A case report of achondrogenesis type II (Langer-Saldino achondrogenesis)

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Saurabh Maheshwari ◽  
Dilip Ingole ◽  
Samar Chatterjee ◽  
Uddandam Rajesh ◽  
Varun Anand
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Antenatal Diagnosis ◽  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Rare Entity ◽  
Case Presentation ◽  
Structural Mutations ◽  
Achondrogenesis Type

Abstract Background Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as Langer-Saldino achondrogenesis. It is characterized by severe micromelia (shortening of entire limb), narrow chest, and prominent abdomen. It shares the striking feature of partial or complete vertebral body demineralization with achondrogenesis type I. Case presentation We present a case with antenatal diagnosis of this rare entity which was confirmed by post-termination radiographs of abortus. Conclusion The imaging plays a cardinal role in the diagnosis of this condition. This case represents only the 4th case of this rare entity from India.

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

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