Results 21 to 30 of about 12,084,964 (131)
Neurodevelopmental and neurological features in children with hypochondroplasia
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter +3 more
wiley +1 more source
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
, 2003 A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal ...
Maas, Mario +4 more
core +1 more source
Thanatophoric Skeletal Dysplasia: A Case Report
, 2020 Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum +2 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
산전초음파로 진단된 Thanatophoric Dysplasia 1례
, 1996 Thanatophoric dysplasia is a lethal disease which is characterized by marked shortening of the extremities, norrow thorax, bowed long boned and polyhydramnios.
송, 찬호 +3 more
core +1 more source
Thanatophoric Dysplasia - Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound. [PDF]
J Med UltrasoundSkeletal 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 ...
Lahel RS, Kumar S, Mishra RK.
europepmc +2 more sources
산전 초음파로 진단된 Thanatophoric Dysplasia
, 1996 Thanatophoric dysplasia is a diseae which is characterized by short-extremites, bowed long bone, narrow thorax and relatively large cranium. Short-limbs, hypoplastic lung and macrocrania are diagnostic features in prenatal sonographic findings.
안, 은주 +6 more
core +1 more source