Results 51 to 60 of about 66,813 (153)
Thanatophoric dysplasia type 1 (TD1): a case report [PDF]
, 2017 Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur,
Sharma, Chandra Madhur, Sharma, Deepti
core
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. [PDF]
PLoS ONE, 2009 Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in bone
Laurent Schibler +10 more
doaj +1 more source
Thanatophoric dysplasia: a rare entity [PDF]
, 2016 Thanatophoric dysplasia (TD), a rare and lethal skeletal dysplasia of neonatal period. Two clinical forms of Thanatophoric dysplasia have been described.
Arya, Sangeeta +3 more
core
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Pregnancy, Volume 2, Issue 2, March 2026.Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM) +3 more
wiley +1 more source
Prenatal Diagnosis, Volume 45, Issue 11, Page 1433-1441, October 2025.ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi +12 more
wiley +1 more source
Evaluating pregnancy termination rates for fetal chromosome and single gene disorders
Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023.
Madeline J. Herman +5 more
wiley +1 more source
Thanatophoric dysplasia Type 1: A rare case of recurrence [PDF]
, 2015 Thanatophoric dysplasia (TD) is the most common form of lethal dysplasias. The prevalence is low 1/20000-1/40000. Newborns with TD died within the neonatal period. Early diagnosis is of prime importance to terminate the pregnancy in time.
Pahariya, Richa +3 more
core +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Thanatophoric dysplasia caused by double missense FGFR3 mutations
, 2009 Thanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor.
Laurent Schibler +15 more
core +1 more source