scholarly journals Antenatal Diagnosis of Achondrogenesis Type II

2009 ◽  
Vol 48 (174) ◽  
pp. 155-7
Author(s):  
Sreelakshmi Kodandapani ◽  
V Ramkumar
Keyword(s):  
Early Detection ◽  
Antenatal Diagnosis ◽  
Ultrasound Screening ◽  
Type Ii ◽  
Prenatal Ultrasonography ◽  
Short Neck ◽  
Radiologic Examination ◽  
Large Head ◽  
Achondrogenesis Type

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 neonate revealed features of achondrogenesis type II. Routine ultrasound screening made early detection and timely management possible.Key Words: achondrogenesis, antenatal, chondrodystroph, congenital

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.

A Cloud-based App for Early Detection of Type II Diabetes with the Aid of Deep Learning

2021 ◽  
Author(s):  
Zubair Azim Miazi ◽  
Shahriar Jahan ◽  
Md. A. K. Niloy ◽  
Roknuzzaman ◽  
Anika Shama ◽  
...  
Keyword(s):  
Deep Learning ◽  
Early Detection ◽  
Type Ii Diabetes ◽  
Type Ii

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

scholarly journals Subclinical onychomycosis in patients with type II diabetes

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Amira Elbendary ◽  
Amira El Tawdy ◽  
Naglaa Zaki ◽  
Mostafa Alfishawy ◽  
Amr Rateb
Keyword(s):  
Early Detection ◽  
Type Ii Diabetes ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Diabetic Patients ◽  
Type Ii ◽  
Periodic Acid Schiff ◽  
Cross Sectional ◽  
Uncontrolled Diabetes ◽  
Fungal Organisms

Fungal organisms could be present in the nail without any clinical manifestations. As onychomycosis in diabetics has more serious complications, early detection of such infection could be helpful to prevent them. We aim in this study to assess the possibility of detecting subclinical onychomycosis in type II diabetic patients and addressing possible associated neuropathy. A cross sectional, observational study included patients with type II diabetes with normal big toe nail. All were subjected to nail clipping of the big toe nail, followed by staining with Hematoxylin and Eosin and Periodic-Acid-Schiff (PAS) stains and examined microscopically. A total of 106 patients were included, fungal infection was identified in eight specimens, all were uncontrolled diabetes, and six had neuropathy. Using the nail clipping and microscopic examination with PAS stain to detect such subclinical infection could be an applicable screening test for diabetic patients, for early detection and management of onychomycosis.

Diagnosis of liver nodules observed in cirrhotics during ultrasound screening for early detection of hepatocellular carcinoma

2001 ◽  
Vol 34 ◽  
pp. 95
Author(s):  
E. Caturelli ◽  
D.A. Siena ◽  
M. Vigliotti ◽  
V. Attino ◽  
M. Bisceglia ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Early Detection ◽  
Ultrasound Screening ◽  
Liver Nodules

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
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