Cargando…

Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abumansour, Iman Sabri, Iskandarani, Radiah Mahmoud, Edrees, Alaa, Javed, Farrukh, Taher, Fadwah, Hakeem, Ghaidaa Farouk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162397/ https://www.ncbi.nlm.nih.gov/pubmed/34094554 http://dx.doi.org/10.1002/ccr3.4079

Ejemplares similares

Underexpression of INPPL1 is associated with aggressive clinicopathologic characteristics in papillary thyroid carcinoma
por: Zhou, Yi-Li, et al.
Publicado: (2018)

Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
por: Dan, Shan, et al.
Publicado: (2016)

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
por: Pemberton, Lara, et al.
Publicado: (2020)

Fetal Skeletal Lethal Dysplasia: Case Report
por: Savoldi, Alexandre Mello, et al.
Publicado: (2017)

Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature
por: Jimah, Bashiru Babatunde, et al.
Publicado: (2021)

CO(2) laser therapy for management of stress urinary incontinence in women: a systematic review and meta-analysis
por: Hafidh, Bandr, et al.
Publicado: (2023)

Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
por: Abumansour, Iman S., et al.
Publicado: (2015)

Femoral morphology in Ortolani’s anatomical collection of developmental dysplasia of the hip: Anteversion is unrelated to severity of infantile dysplasia
por: Huayamave, Victor, et al.
Publicado: (2023)

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
por: Shen, Xueping, et al.
Publicado: (2023)

Congenital acinar dysplasia: a lethal entity
por: Oneto, Sabrina, et al.
Publicado: (2019)

Requirement for hexose, unrelated to energy provision, in T-cell- mediated cytolysis at the lethal hit stage
Publicado: (1978)

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort
por: Rajala, Katri, et al.
Publicado: (2022)

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
por: Stembalska, Agnieszka, et al.
Publicado: (2022)

Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature
por: Hussein, Ahmed Issak, et al.
Publicado: (2022)

Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
por: Yoo, H. W., et al.
Publicado: (1998)

Isolated Ileal Perforation in Infancy: A Lethal Initial Presentation of Hirschsprung's Disease
por: Iskandarani, Fadi, et al.
Publicado: (2017)

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
por: Heo, Ju Sun, et al.
Publicado: (2012)

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
por: Mohajeri, Mahsa Sadat Asl, et al.
Publicado: (2021)

A Prenatal Case of Arrhythmogenic Right Ventricular Dysplasia
por: Lopes, Lilian Maria, et al.
Publicado: (2018)

Identifying large sets of unrelated individuals and unrelated markers
por: Abraham, Kuruvilla Joseph, et al.
Publicado: (2014)

Ethical language and decision-making for prenatally diagnosed lethal malformations
por: Wilkinson, Dominic, et al.
Publicado: (2014)

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
por: Reilly, Madeline Louise, et al.
Publicado: (2022)

Prenatal Genetic Diagnosis in Three Fetuses With Left Heart Hypoplasia (LHH) From Three Unrelated Families
por: Luo, Sukun, et al.
Publicado: (2021)

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex
por: Abumansour, Iman S., et al.
Publicado: (2019)

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases
por: Liu, Yan, et al.
Publicado: (2019)

Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study
por: Waratani, Miyoko, et al.
Publicado: (2020)

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia
por: Wang, Ching-Yuan, et al.
Publicado: (2021)

Prenatal ultrasound findings of ectodermal dysplasia: a case report
por: Li, Liang, et al.
Publicado: (2022)

Skeletal Dysplasias
por: Seashore, Margretta R.
Publicado: (1983)

KDM2B Is Implicated in Bovine Lethal Multi-Organic Developmental Dysplasia
por: Testoni, Stefania, et al.
Publicado: (2012)

A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis
por: Kim, Susan Taejung, et al.
Publicado: (2019)

Prenatal enzyme replacement therapy for Akp2(−/−) mice with lethal hypophosphatasia
por: Hasegawa, Akihiro, et al.
Publicado: (2021)

Successful Pregnancy in a 29-Year-Old G3P2 Shortly After Unilateral Pneumonectomy and Systemic Chemotherapy for Lung Cancer: A Case Report
por: Aloufi, Daniyah, et al.
Publicado: (2023)

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
por: Muys, Joke, et al.
Publicado: (2017)

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
por: Stals, Karen L., et al.
Publicado: (2017)

TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys
por: Friedmann, Isabel, et al.
Publicado: (2020)

The management of skeletal dysplasia
por: Cho, Tae-Joon
Publicado: (2013)

Skeletal dysplasias : papers presented at the Johns Hopkins Hospital /
Publicado: (1974)

Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia
por: Shinar, S., et al.
Publicado: (2020)

Association of Hip Dysplasia With Trochlear Dysplasia in Skeletally Mature Patients
por: Fithian, Andrew T., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_sd9e2l7dh3ufqj3ee88kninml5