Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report

2009 ◽  
Vol 29 (7) ◽  
pp. 715-717 ◽  
Author(s):  
Takahiro Yamada ◽  
Hideaki Sawai ◽  
Gen Nishimura ◽  
Hironao Numabe ◽  
Kazutoshi Cho ◽  
...  
Keyword(s):  
Case Report ◽  
Skeletal Dysplasia ◽  
Trisomy 21 ◽  
San Diego ◽  
Nuchal Translucency ◽  
Thanatophoric Dysplasia ◽  
Lethal Skeletal Dysplasia

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 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.

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1

2015 ◽  
Vol 35 (7) ◽  
pp. 685-687
Author(s):  
L. Zhen ◽  
M. Pan ◽  
J. Han ◽  
X. Yang ◽  
C. Liao ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Thanatophoric Dysplasia

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

2014 ◽  
Vol 56 (4) ◽  
pp. e26-e29 ◽  
Author(s):  
Shinkai Inoue ◽  
Atsushi Ishii ◽  
Goro Shirotani ◽  
Makoto Tsutsumi ◽  
Eiji Ohta ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
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

scholarly journals Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bashiru Babatunde Jimah ◽  
Teresa Aba Mensah ◽  
Kofi Ulzen-Appiah ◽  
Benjamin Dabo Sarkodie ◽  
Dorothea Akosua Anim ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Potential Contribution ◽  
Ultrasound Scan ◽  
Thanatophoric Dysplasia ◽  
Amniotic Fluid Index ◽  
Fgfr3 Gene ◽  
Local Setting ◽  
Characteristic Features ◽  
Female Baby

Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shortening of limbs, macrocephaly and platyspondyly. In our local setting, it is common to miss the diagnosis in the early scans due to lack of expertise of the sonographers. To the best of our knowledge, this is the first publication from Ghana. Case Presentation. We present the case of a 33-year-old woman who was referred to the facility on account of ultrasound scan report suggestive of thanatophoric dysplasia type 1 at 34 weeks of a female baby. The diagnosis was not made despite the mother being a regular antenatal attendant, until a fifth scan done at 34 weeks reported features suggestive of thanatophoric dysplasia. The ultrasound scan features included a biparietal diameter of 37weeks, femur length—24weeks, narrowed thoracic cage with hypoplastic lungs and short ribs. The liquor volume was increased with amniotic fluid index (AFI) of 38.4 cm. The femur, tibia, fibula, humerus, ulna, and radius were shortened (micromelia). The diagnosis of thanatophoric dysplasia type 1 was confirmed on autopsy. Conclusion. This report was aimed to highlight the potential contribution of ultrasound scan in the diagnosis of thanatophoric dysplasia in our setting.

scholarly journals Thanatophoric Dysplasia

2021 ◽  
Vol 5 (1) ◽  
pp. 112-118
Author(s):  
Vaulinne Basyir ◽  
Yusrawati Yusrawati ◽  
Gistin Husnul Khatimah
Keyword(s):  
Case Report ◽  
Bone Formation ◽  
Active Phase ◽  
Saddle Nose ◽  
Thanatophoric Dysplasia ◽  
Nasal Bridge ◽  
Fgfr3 Gene ◽  
History Of ◽  
Macroscopic Findings ◽  
Lethal Skeletal Dysplasia

Background: The term tanatophorik comes from the Greek word thanatophorus which means "innate death" or "bearing death". The problem that underlies this disease is the process of bone formation. This disease is associated with an autosomal dominant inherited mutation of the fibroblast growth factor 3 receptor (FGFR3) gene on the arm of chromosome 4 (4p16.3). Because FGFR3 is the main modulator in bone formation, the typical clinical features of this disease include shortening of the extremities, curved femur, clover-like skull and narrowing of the thoracic cavity.Tanatophoric dysplasia is a skeletal disorder that is "lethal" or deadly. The deaths occurred due to respiratory failure caused by reduced chest cavity capacity, hypoplastic lungs and / or brainstem compression.Destination: Reported a case of thanatophoric dysplasiaMethod: Case Report Case Report: Case 33 years old woman, with preterm parturient G1P0A0H0 35-36 weeks 1 latent phase + history of 2x laparotomy + suspected fetal tanatophoric dysplasia. On ultrasound examination, it was found that BPD = 9.14 cm; AC = 30.56 cm; HC = 32.05 cm; FL = 2.55 cm; AFI; 9.06cm; SDAU = 1.72 cm. The presence of frontal bosing, saddle nose and micromilia (proximal, distal, phalanges) was found. The patient was planned for vaginal delivery and the progress of labor was followed. Patients provided informed consent regarding the possibility of fetal death during labor and after birth. During the active phase of the labor process, hypotony uterine innersia occurs and oxytocin drip is performed to accelerate labor. The baby was born male, weight 2175 grams, body length 34 cm and A / S: 1/0. Postmortem physical examination revealed macroscopic findings of tanatophoric dysplasia infants such as hypertelorism, low nasal bridge, cranio-facial disproportion. Narrow chest with protruding abdomen and short, bent limbs.Conclusion: Tanatophoric dysplasia is "lethal" skeletal dysplasia. Careful prenatal examination is required in diagnosis and termination of pregnancy. Keywords: Thanatophoric dysplasia, prenatal diagnosis

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