Results 1 to 10 of about 673 (105)

Sporadic Class II Congenital humeroradial synostosis and Left Micromelia in a three-and-a-half-months female Ghanaian infant [PDF]

Radiology Case Reports
Congenital humeroradial synostosis (CHRS) is a rare musculoskeletal condition that significantly affects the mobility of the elbow joint. They occur in various types and forms depending on the types and numbers of bones involved at the elbow.
Emmanuel Kobina Mesi Edzie, Klenam Dzefi-Tettey, Edmund Brakohiapa   +2 more
exaly   +4 more sources

Skeletal Dysplasia: A Case Report [PDF]

Diagnostics, 2023
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman’s first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a ...
Nicolae Gică, Gabriela Mîrza, Corina Gică, Anca Maria Panaitescu, Anca Marina Ciobanu, Gheorghe Peltecu, Iulia Huluță   +6 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

Bilateral ulna hemimelia with humeroradial synostosis and oligodactyly: A case report [PDF]

Radiology Case Reports
Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000.
Yaa Achiaa Afreh, FWACS, MBChB, BSc, Kwasi Adjepong Twum, FWACS, MGCP, MBChB, BSc, Adu Tutu Amankwa, FWACS, MBChB, BSc, Kwasi Ankomah, FGCP, MBChB, BSc, Obed Kojo Otoo, FGCP, MBChB, BSc, Caroline Oku, MGCP, MBChB, BSc   +5 more
doaj   +2 more sources

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum [PDF]

Case Reports in Genetics
Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification.
Supitcha Thamissarakul, Teeraphorn Boonswang, Sethapong Lertsakulbunlue, Siriluk Khumsui, Boonchai Boonyawat   +4 more
doaj   +2 more sources

Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia [PDF]

Journal of Genetic Engineering and Biotechnology
Background: Genome association studies have shown that gene-gene interactions or epistasis play a crucial role in identifying the etiology, prognosis, and treatment response of many complex diseases beyond their main effects.
Nathalie Yepes Madrid, Lina Johanna Moreno Giraldo   +1 more
doaj   +2 more sources

Thanatophoric Dysplasia: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat ...
Manisha Sharma, Jyoti, Rekha Jain, Devendra   +3 more
doaj   +1 more source

THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS

Неонатологія, хірургія та перинатальна медицина, 2023
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка, А. Бабінцева, В. Анцупова, Л. Брішевац, О. Юрків, І. Малєєва   +5 more
doaj   +1 more source

Effect of Curcuma longa alcoholic extract on Mice Embryos Development

Ibn Al-Haitham Journal for Pure and Applied Sciences, 2023
      This study focused on determining the effect of the alcoholic extract of curcuma longa on mouse embryo, twenty adult white Swiss mice used in this study. Experimental animals were divided into four groups with six mice for each group.
Doha Ali, Zainab Karim
doaj   +1 more source

A case of prenatal diagnosis of diastrophic dysplasia in the 1st trimester of pregnancy

Медицинский вестник Юга России, 2022
A case of early prenatal diagnosis of diastrophic dysplasia at 13 weeks 2 days of gestation is described. During ultrasound screening of the first trimester, fetal changes characteristic of this form of systemic skeletal dysplasia were revealed ...
S. A. Tyo
doaj   +1 more source