Results 41 to 50 of about 145,893 (342)

IGF‐1 Deficiency Serves as an Integrated Biomarker Pathogenic Driver and Predictor in Poor Ovarian Response

Advanced Science, EarlyView.
IGF‐1 deficiency underlies poor ovarian response (POR), as reduced levels in follicular fluid and granulosa cells impair antral follicle formation and compromise reproductive outcomes. Including IGF‐1 as a biomarker significantly enhances the accuracy of models predicting both PORrisk and pregnancy success.
Zhu Hu, Yuanyuan Yu, Guanyou Huang, Jinnan Li, Chao Yang, Aizhuan Long, Jia Tang, Tengxiang Chen, Shuyun Zhao, Tuo Zhang   +9 more
wiley   +1 more source

Becker's nevus syndrome with bilateral skin involvement

Dermatologica Sinica, 2014
Becker’s nevus syndrome is a rare disorder characterized by Becker's nevus associated with developmental anomalies, such as hypoplasia of the ipsilateral breast or other cutaneous, muscular, or skeletal defects.
L.U. Rongbiao, M.A. Han, L.U. Chun, L.A.I. Wei   +3 more
doaj   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Left segmental hypoplasia of liver with concomitant gallbladder agenesis

Clinical Case Reports, 2023
Key Clinical Message Congenital liver anomalies are rarely reported. To the best of our knowledge and literature review, associated gallbladder agenesis with left hepatic lobe agenesis is extremely rare.
Narendra Pandit, Durga Neupane
doaj   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Complete Mouth Rehabilitation in a Patient with Fanconi Anaemia: A Rare Genetic Disorder [PDF]

Journal of Clinical and Diagnostic Research
Fanconi anaemia is a rare, progressive congenital bone marrow failure syndrome characterised by autosomal recessive inheritance and clinical manifestations, including growth retardation, bone marrow failure leading to pancytopenia, an elevated risk of ...
Maha Mahmoud, Saad AbdulMohsen AlQabbani, Sumit Rajinder Bedi, Sonali Vedraj Sharma   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Dyke-Davidoff-Masson Syndrome

Journal of Nobel Medical College, 2012
Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses ...
Naba Raj Koirala, Roshana Khadka, Manoj Bhattarai, Dibya Tulachan, Ajay Kumar Das, Jwalanta Poudel   +5 more
doaj   +1 more source

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

Frontiers in Endocrinology, 2023
IntroductionMIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.
Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee   +5 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source