Results 71 to 80 of about 16,006 (225)
Goldenhar syndrome with blepharophimosis and limb deformities: a case report
BMC Ophthalmology, 2018 Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding +6 more
doaj +1 more source
Molecular Cytogenetics, 2020 Background Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide
Juan Pablo Meza-Espinoza +9 more
doaj +1 more source
Fraser of cryptophthalmosis syndrome: A case report [PDF]
, 2004 Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B. +3 more
core
Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy [PDF]
, 2007 Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities.
CARTA, M +6 more
core +1 more source
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]
, 2018 Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush +3 more
core +1 more source
Duplication 9p and their implication to phenotype [PDF]
, 2014 Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them ...
Dantas, Anelisa Gollo +8 more
core +2 more sources
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors [PDF]
, 2020 Genomic instability can be a hallmark of both human genetic disease and cancer. We identify a deleterious UBQLN4 mutation in families with an autosomal recessive syndrome reminiscent of genome instability disorders.
Beleggia, Filippo +7 more
core +1 more source
Clinical Genetics, EarlyView.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
, 2010 We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core +1 more source