The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with (“San Diego” variant) and without ragged metaphyses due to the sameFGFR3mutation

2013 ◽  
pp. n/a-n/a
Author(s):  
Marco Castori ◽  
Silvia Morlino ◽  
Francesca Clementina Radio ◽  
Carmelilia De Bernardo ◽  
Paola Grammatico
Keyword(s):  
San Diego ◽  
Thanatophoric Dysplasia

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

scholarly journals A Rare Case: Genetically Confirmed Newborn with Thanatophoric Dysplasia Type 1 (TD1)

2021 ◽  
Vol 9 (1) ◽  
pp. 1
Author(s):  
I Gusti Ayu Dwi Aryani ◽  
I Made Arimbawa ◽  
Made Kardana ◽  
Ni Nyoman Ayu Dewi ◽  
Pande Putu Yuli Anandasari
Keyword(s):  
Rare Case ◽  
Thanatophoric 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 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.

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