Results 11 to 20 of about 2,478 (209)

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis [PDF]

Sultan Qaboos University Medical Journal, 2013
Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia.
Renate Marquis-Nicholson, Salim Aftimos, Donald R. Love   +2 more
doaj   +6 more sources

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination. [PDF]

Congenit Anom (Kyoto)
Abstract The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X‐ray examination revealed significant abnormalities, including skeletal malformations with prominent TD‐1 femur ...
Abba Deka I, Theotokis P, Manthou ME, Mathioudi A, Athanasiou E, Meditskou S.   +5 more
europepmc   +3 more sources

Thanatophoric dysplasia: a case report [PDF]

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2019
Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with non-consanguineous marriage; admitted at 9 months of gestation to present hospital with complain of ...
Uruj Jahan, Astha Sharma, Neena Gupta, Shruti Gupta, Fatima Usmani, Ankita Rajput   +5 more
core   +5 more sources

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy.
Liangcheng Wang, Yasushi Takai, Kazunori Baba, Yukiko Mikami, Masahiro Saito, Isao Horiuchi, Ryo Konno, Kenjiro Takagi, Hiroyuki Seki   +8 more
doaj   +2 more sources

Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound [PDF]

Journal of Medical Ultrasound
Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the ...
Ranjit Singh Lahel, Sangeet Kumar, Rajesh Kumar Mishra   +2 more
doaj   +2 more sources

Thanatophoric Dysplasia

JOURNAL OBGIN EMAS, 2019
Tujuan: Melaporkan kasus thanatophoric dysplasiaMetode: Laporan kasusHasil: Kasus wanita berusia 25 tahun, dengan diagnosa G4P2A1H2 gravid preterm 31-32 minggu + polihidramnion + hidrops fetalis, janin hidup tunggal intrauterin dengan thanatophoric dysplasia Pada pemeriksaan USG ditemukan biometri janin; BPD : 7,78 cm, FL : 3,58 cm, HL : 3,11 cm,
Tria Sari Retno Asih, Roza Sriyanti
openalex   +3 more sources

Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study [PDF]

Autopsy and Case Reports, 2014
Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967.
Éber Emanuel Mayoral, Regina Schultz, Sérgio Rosemberg, Lisa Suzuki, Luiz Antonio Nunes de Oliveira, Fernando Uliana Kay   +5 more
doaj   +2 more sources

Thanatophoric dysplasia: case-based bioethical analysis

Medwave, 2014
This paper presents a case report of thanatophoric displasia diagnosed in the prenatal period using ultrasound standards. The course of the case pregnancy, birth process, and postnatal period is described.
Edgar Abarca López, Alejandra Rodríguez Torres, Donovan Casas Patiño, Esteban Espíndola Benítez   +3 more
doaj   +2 more sources

Thanatophoric Dysplasia : Antenatal Diagnosis. [PDF]

Med J Armed Forces India, 2009
Skeletal dysplasias constitute a heterogeneous group of bone growth disorders resulting in abnormal shape and size of the skeleton. The existing classification is complicated because many are referred to by eponyms. Thanatophoric dysplasia is the most common form of skeletal dysplasia that is lethal in neonatal period.
Sahu S, Kaur P.
europepmc   +5 more sources

Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing [PDF]

Revista Chilena de Obstetricia y Ginecología
Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.
Wilmar Saldarriaga, Manuel A. Vásquez-Salguero, Viviana López-López   +2 more
doaj   +2 more sources