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

scholarly journals Thanatophoric dysplasia: a case report

2019 ◽  
Vol 8 (2) ◽  
pp. 758
Author(s):  
Uruj Jahan ◽  
Astha Sharma ◽  
Neena Gupta ◽  
Shruti Gupta ◽  
Fatima Usmani ◽  
...  
Keyword(s):  
Rare Case ◽  
Consanguineous Marriage ◽  
Thanatophoric Dysplasia ◽  
New Mutation ◽  
High Importance ◽  
Dysmorphic Features ◽  
Fgfr3 Gene ◽  
Pain Abdomen ◽  
Female Baby ◽  
Lethal Skeletal Dysplasia

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 pain abdomen for 2 days. Patient delivered a term female baby of vaginally which had delayed cry after birth, Admitted in NICU immediately with respiratory distress. The baby looked dysmorphic and suggested TD as most likely diagnosis. The case is being reported for its rarity and for high importance of early booking and anomaly scan. Early diagnosis is important since it provides alternative options of termination of pregnancy when an affected foetus is detected.

Gianotti-Crosti Syndrome in a Child with Recent Covid-19 Infection: A Case Report

2021 ◽  
Vol 15 (12) ◽  
pp. 3476-3477
Author(s):  
Youssef A. Alqahtani ◽  
Ayed A. Shati ◽  
Ahmad A. Alhanshani ◽  
Faisal H. Tobeigei ◽  
Saleh M. Alqahtani
Keyword(s):  
Polymerase Chain Reaction ◽  
Case Report ◽  
Supportive Therapy ◽  
Active Phase ◽  
Acute Onset ◽  
Chain Reaction ◽  
Cutaneous Manifestations ◽  
Upper And Lower Extremities ◽  
History Of ◽  
Polymerase Chain

Gianotti-Crosti Syndrome is a rare skin disease affecting children at the first years of age. The condition is clinically featured by blisters on the skin of the legs, buttocks and arms. A history of viral infection preceding the disease was reported for many cases. A 12-month-old boy, free of any medical illnesses, was presented with a history of acute-onset rash for five days prior to presentation that was preceded by a history of fever for two days then subsided. The rashes appeared initially on his buttocks, then spread to his upper and lower extremities and trunk. The child had fever, sore throat and coryza symptoms with lethargy. A polymerase chain reaction (PCR) swab was taken to test for SARS-CoV-2, which was positive two weeks before rash onset. All symptoms resolved in 1 week with supportive therapy and the current rashes appeared two weeks later in the patient. Gianotti–Crosti syndrome may follow the active phase of infection for some cases. It should not be misdiagnosed with dermatological simple eruptive disorders. The clinical features for covid-19 associated infection are typical for the well-known clinical picture of the syndrome. The case was reported to improve clinicians’ awareness and help in better understanding and reporting cutaneous manifestations of COVID-19. Keywords: Gianotti-Crosti Syndrome; Infants; Children; covid-19; Corona

scholarly journals Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report

2020 ◽  
Vol 47 (3) ◽  
pp. 277-279
Author(s):  
O.W. Daniyan ◽  
O.B. Ezeanosike ◽  
C. Ogbonna-Nwosu ◽  
U.C. Iloduba
Keyword(s):  
Growth Factor ◽  
Fibroblast Growth Factor ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Lower Limbs ◽  
Fibroblast Growth ◽  
Thanatophoric Dysplasia ◽  
Tertiary Institution ◽  
Nasal Bridge ◽  
Fgfr3 Gene

Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word  thanatophorus meaning death bringing. Thanatophoric dysplasia results from mutations within the Fibroblast Growth Factor Receptor 3 (FGFR3) gene which is located on chromosome 4p16.3. A female neonate with dysmorphic features such as macrocephaly, frontal bossing, periorbital  swelling and depressed nasal bridge was delivered to a 35year old woman. The upper and lower limbs were short with excessive skin folds. A case of female neonate with thanatophoric dysplasia is hereby reported to raise awareness of this condition and to describe the features of thanatophoric dysplasia seen in this patient . Key words: Thanatophoric Dysplasia (TD), Fibroblast Growth Factor Receptor 3 Gene (FGFR3), dysmorphic, macrocephaly 

Popliteal artery thrombosis secondary to a tibial osteochondroma

VASA ◽  
2011 ◽  
Vol 40 (3) ◽  
pp. 251-255 ◽  
Author(s):  
Gruber-Szydlo ◽  
Poreba ◽  
Belowska-Bien ◽  
Derkacz ◽  
Badowski ◽  
...  
Keyword(s):  
Case Report ◽  
Magnetic Resonance Angiography ◽  
Popliteal Artery ◽  
Doppler Ultrasonography ◽  
Histopathological Examination ◽  
Previous History ◽  
Plain Radiography ◽  
Artery Thrombosis ◽  
History Of ◽  
The Right

Popliteal artery thrombosis may present as a complication of an osteochondroma located in the vicinity of the knee joint. This is a case report of a 26-year-old man with symptoms of the right lower extremity ischaemia without a previous history of vascular disease or trauma. Plain radiography, magnetic resonance angiography and Doppler ultrasonography documented the presence of an osteochondrous structure of the proximal tibial metaphysis, which displaced and compressed the popliteal artery, causing its occlusion due to intraluminal thrombosis..The patient was operated and histopathological examination confirmed the diagnosis of osteochondroma.

An unusual presentation of epigastric pain due to thrombophlebitis of a recanalised umbilical vein – case report

2019 ◽  
Vol 98 (8) ◽  
pp. 326-327 ◽  
Keyword(s):  
Liver Cirrhosis ◽  
Abdominal Pain ◽  
Case Report ◽  
Portal Hypertension ◽  
Liver Disease ◽  
Epigastric Pain ◽  
Umbilical Vein ◽  
History Of ◽  
Clinically Significant ◽  
Inflammatory Changes

Introduction: The umbilical vein can become recanalised due to portal hypertension in patients with liver cirrhosis but the condition is rarely clinically significant. Although bleeding from this enlarged vein is a known complication, the finding of thrombophlebitis has not been previously described. Case report: We report the case of a 62-year-old male with a history of liver cirrhosis due to alcoholic liver disease presenting to hospital with epigastric pain. A CT scan of the patient’s abdomen revealed a thrombus with surrounding inflammatory changes in a recanalised umbilical vein. The patient was managed conservatively and was discharged home the following day. Conclusion: Thrombophlebitis of a recanalised umbilical vein is a rare cause of abdominal pain in patients with liver cirrhosis.

Abnormal P wave Morphology in the Electrocardiogram of a Hurdle Runner with a History of Presyncope - A Case Report

2008 ◽  
Vol 12 (2) ◽  
pp. 46-48 ◽  
Author(s):  
Małgorzata Poręba ◽  
Robert Skalik ◽  
Rafał Poręba ◽  
Paweł Gać ◽  
Witold Pilecki ◽  
...  
Keyword(s):  
Case Report ◽  
P Wave ◽  
Wave Morphology ◽  
History Of

A rare case of duodenal cancer with achalasia cardia

2019 ◽  
Vol 22 (2) ◽  
pp. 32-34
Author(s):  
Kartikesh Mishra
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Similar Case ◽  
Barium Meal ◽  
Duodenal Adenocarcinoma ◽  
Gastrointestinal Malignancies ◽  
Achalasia Cardia ◽  
Proliferative Growth ◽  
History Of ◽  
Duodenal Carcinoma

Duodenal adenocarcinoma constitutes 0.4% of gastrointestinal malignancies. Achalasia incidence rate is 0.5-1.2 per 100000. The combination is rare. This is a report of a 68-year-old male from Nepal with history of five years abdominal pain, dysphasia and weight loss. Duodenoscopy could confirm ulcero-proliferative growth at D1-D2. Barium meal depicted features of achalasia cardia. No similar case report suggests that occurrence of duodenal carcinoma and achalasia cardia is merely co- incidental. Discussion: No similar case report suggests that occurrence of duodenal carcinoma and achalasia cardia is merely co- incidental. Consent: Informed consent was obtained from the patient for publication of this case report .

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