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

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

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.

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations

1999 ◽  
Vol 84 (5) ◽  
pp. 476-480 ◽  
Author(s):  
Steven G. Brodie ◽  
Hiroshi Kitoh ◽  
Ralph S. Lachman ◽  
Loyda M. Nolasco ◽  
Pertchoui B. Mekikian ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
San Diego ◽  
Fgfr3 Mutations ◽  
Lethal Skeletal Dysplasia

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

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

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

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