scholarly journals Thanatophoric Dysplasia

2019 ◽  
Vol 3 (2) ◽  
pp. 137-141
Author(s):  
Tria Sari Retno Asih ◽  
Roza Sriyanti
Keyword(s):  
Skeletal Dysplasia ◽  
Sex Chromosome ◽  
Ultrasound Examination ◽  
Chromosome Analysis ◽  
Banding Technique ◽  
Thanatophoric Dysplasia ◽  
Fetal Biometry ◽  
Report Result ◽  
Live Fetus ◽  
Lethal Skeletal Dysplasia

Objective: Report a case of thanatophoric dysplasiaMethod: Case report Result: Case of a 25-year-old woman, with a diagnosis of gravid preterm G4P2A1H2 31-32 weeks + polyhydramnios + fetal hydrops, a single intrauterine live fetus with thanatophoric dysplasia. On ultrasound examination found fetal biometry; BPD: 7.78 cm, FL: 3.58 cm, HL: 3.11 cm, AC: 30.90 cm, HC: 28.48 cm AFI: 33.27 cm, a frontal bossing (+) picture appears, claver leaf skull (+) and micromelia (proximal, distal, phalanges). The ultrasound examination suggested Severe skeletal dysplasia (thanatophoric dysplasia), polyhydramnios, + single intrauterine live fetus + SC 1x scars. Then an amnioinfusion is performed and results are obtained. Chromosome analysis is carried out using the G-banding technique. Chromosomes have been studied from 20 cells from 3 different cell culture preparations and obtained the number of chromosomes in each cell studied is 46, XY which means the number of chromosomes 46 pieces with fetal sex chromosome XY. Mosaic chromosome abnormalities generally occur due to non-disjuntion in the mitotic phase after conception. At 33-34 weeks gestation, an infant was born by SC with birth weight: 1900 g, baby’s length: 31 cm, A / S 2/3.Conclusion : Thanatophoric dysplasia is a "lethal" skeletal dysplasia. A careful prenatal examination is needed in the diagnosis and termination of pregnancy.Keywords: Thanatophoric dysplasia, prenatal diagnosis

scholarly journals Hydrops Fetalis

2019 ◽  
Vol 3 (2) ◽  
pp. 151-155
Author(s):  
Jofril Azmi ◽  
Roza Sriyanti
Keyword(s):  
Sex Chromosome ◽  
Ultrasound Examination ◽  
Chromosome Analysis ◽  
Hydrops Fetalis ◽  
Banding Technique ◽  
Fetal Imaging ◽  
Fetal Biometry ◽  
Structural Abnormalities ◽  
Abnormal Accumulation ◽  
Live Fetus

Objective: To report cases of hydrops fetalisMethod: Case reportResults: The case was a female patient aged 36 years, with a diagnosis of G3P1A1H1 gravid 23-24 weeks + Hydrops Fetalis + 1x SC former. On ultrasound examination at 23-24 weeks of age, fetal biometry was found; BPD: 58.9 mm, HC: 211.0 mm, AC: 202.5 mm, FL: 44.4 mm, HL: 40.7 mm, EFW: 417 gr, SDP: 12.79 cm, FHR: 162x / minute, shows anasarcoma edema (+), hydrothoric (+), ascites (+), impression: gravid 23-24 weeks according to biometry, live fetus, Hydrops fetalis, polyhydramnios. Then amniocentesis was carried out followed by a chromosome analysis examination carried out by the G-Banding technique. The chromosomes from 18 cells from 3 different cell culture preparations were carried out and obtained the number of chromosomes in each cell studied was 46, XY, which means that the number of chromosomes is 46. fruit with the fetal sex chromosome is XY. No major structural abnormalities were seen. At 25-26 weeks of gestation, the baby was born by SC with BBL: 2100 gr, PB: 32 cm, maceration degrees 2- 3, Hydrops Fetalis.Conclusion: Hydrops Fetalis is an abnormal accumulation of fluid in 2 or more compartments of the fetal body. The prenatal diagnosis of Hydrops Fetalis can be confirmed by fetal imaging, maternal hematology, amniocentesis.Keywords: Hydrops Fetalis, polyhydramnios

scholarly journals Thanatophoric Dysplasia —A Lethal Skeletal Dysplasia

2016 ◽  
Vol 6 (1) ◽  
pp. 55-56
Author(s):  
Nasima Akter
Keyword(s):  
Skeletal Dysplasia ◽  
Thanatophoric Dysplasia ◽  
Lethal Skeletal Dysplasia

Abstract not availableJ Enam Med Col 2016; 6(1): 55-56

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type

1998 ◽  
Vol 28 (10) ◽  
pp. 759-763 ◽  
Author(s):  
Hiroshi Kitoh ◽  
Ralph S. Lachman ◽  
Steven G. Brodie ◽  
Pertchoui B. Mekikian ◽  
David L. Rimoin ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
San Diego ◽  
Thanatophoric Dysplasia ◽  
Ossification Centers ◽  
Lethal Skeletal Dysplasia

Thanatophoric dysplasia: possibilities of prenatal ultrasound diagnosis. Part 2. Temporal lobe dysplasia

2017 ◽  
Author(s):  
M.A. Esetov , A.M. Esetov , G.M. Bekeladze
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Temporal Lobe ◽  
Skeletal Dysplasia ◽  
Common Type ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Lethal Skeletal Dysplasia

Thanatophoric dysplasia (TD) is the most common type of lethal skeletal dysplasia. Differential diagnosis of TD (type I) is not always possible. In recent years, the possibility of ultrasound diagnosis of fetal temporal lobe dysplasia (TLD) as a sign of TD verification. Echographic diagnosis of TLD and ultrasound signs of abnormal sulcations in 3 fetuses with lethal signs of dysplasia at 20–24 weeks of gestation are presented. Issues ability of prenatal diagnosis of temporal lobe dysplasia are discussed.

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Bone ◽  
2020 ◽  
Vol 141 ◽  
pp. 115601
Author(s):  
Meagan Collins ◽  
Valancy Miranda ◽  
Justine Rousseau ◽  
Lisa E. Kratz ◽  
Philippe M. Campeau
Keyword(s):  
Skeletal Dysplasia ◽  
Receptor Gene ◽  
Lamin B ◽  
Homozygous Variant ◽  
Lamin B Receptor ◽  
Lethal Skeletal Dysplasia
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