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

scholarly journals Achondrogenesis Type 2 (Langer-Saldino)

2013 ◽  
Vol 7 ◽  
pp. 60-62
Author(s):  
Ali kaya ◽  
Ahmet Sami Guven ◽  
Mevlut Demir ◽  
Hatice Gunes ◽  
Fatma Duksal ◽  
...  
Keyword(s):  
Achondrogenesis Type

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.

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

2010 ◽  
Vol 152A (7) ◽  
pp. 1822-1824 ◽  
Author(s):  
Jessica M. Comstock ◽  
Angelica R. Putnam ◽  
Nikhil Sangle ◽  
Amy Lowichik ◽  
Nancy C. Rose ◽  
...  
Keyword(s):  
Germline Mosaicism ◽  
Achondrogenesis Type

scholarly journals MINOR DEGREE PLACENTA PRAEVIA;

2012 ◽  
Vol 19 (01) ◽  
pp. 028-032
Author(s):  
TALAT SHAHEEN ◽  
ISLAM BANO
Keyword(s):  
Caesarean Section ◽  
Transvaginal Ultrasound ◽  
Mode Of Delivery ◽  
Placenta Praevia ◽  
Cervical Ripening ◽  
Military Hospital ◽  
Minor Degree ◽  
Convenience Sampling

Objective: To find out the mode of delivery when the distance of placenta edge to internal os is more than 2 cm and less than 5cm i.e minor degree placenta praevia. Study Design: Descriptive Study. Place and Duration of Study: The study was done at CombinedMilitary Hospital Rawalpindi and Military Hospital Rawalpindi from January 2005 to January 2006. Patient and Methods: A total of 100 patientsadmitted in obstretic ward were selected according to the inclusion and exclusion criteria by convenience sampling. Patients with ante partumhaemorrhage after 34 weeks admitted, resuscitated and then investigated by blood tests and transvaginal ultrasound. Only patients withplacental edge to internal os distance of more than 2 cm were selected for study. Booked patients of placenta praevia type 1 and type 2 of morethan 37 weeks after bishop scoring and cervical ripening were delivered vaginally by ARM and Oxytocin. Results: In our study, out of selectedpatients 100 patients of placenta praevia type 1 and type 2 were selected, results of these patients were (a) 63% patients were deliveredvaginally. (b) 37% of patients were delivered by caesarean section. (c) 46% of patients with para 4 had placenta praevia as compared toprimigravida who had placenta praevia 15%. (d) 59 % of deliveries occurred at 34-36 years of gestation while 41% of deliveries were occurred atgestation of >36 years. Conclusions: Patients with placental edge more then 2 cm should be given a trial of vaginal delivery instead of goingstraight away to caesarean section.

scholarly journals Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

2019 ◽  
Vol 22 (1) ◽  
pp. 89-94 ◽  
Author(s):  
P Dogan ◽  
IG Varal ◽  
O Gorukmez ◽  
MO Akkurt ◽  
A Akdag
Keyword(s):  
Neonatal Intensive Care ◽  
Novel Mutation ◽  
Lung Hypoplasia ◽  
Col2a1 Gene ◽  
Missense Variation ◽  
Next Generation Sequencing Ngs ◽  
Achondrogenesis Type ◽  
Generation Sequencing ◽  
Lethal Skeletal Dysplasia

AbstractAchondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ΙΙΙ Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the COL2A1 gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G>A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.

Sign in / Sign up

Export Citation Format

Share Document