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Head and Neck Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Warrenkevin Henderson, Hannah Jacobson, Noelle Purcell, Kylar Wiltz
Inferior rectus muscles were thinner than normal in fetuses with anencephaly (Plock et al. 2007) and in a fetus with trisomy 18 and cyclopia (Smith et al. 2015). In a fetus with prosencephaly, there was a tripartite inferior rectus (von Lüdinghausen et al. 1999). Its lateral belly blended with the posterior tendon of inferior oblique and its medial belly attached medial to the main belly of inferior rectus (von Lüdinghausen et al. 1999). In two fetuses with triploidy, the attachments of the recti onto the sclera were shifted posteriorly (Moen et al. 1984). Diamond et al. (1980) noted the absence of the right inferior rectus in a child with craniofacial dysostosis. In a child with Axenfeld-Rieger syndrome, there was hypoplasia of inferior rectus on the right side (Bhate and Martin 2012).
Alagille Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for ALGS include other conditions that present with cholestasis (neonates with biliary atresia, sepsis, galactosemia, tyrosinemia, choledochal cyst; patients with progressive familial intrahepatic cholestasis types 1 and 2, arthrogryposis–renal dysfunction–cholestasis syndrome, benign recurrent intrahepatic cholestasis, Norwegian cholestasis [Aagenaes syndrome], benign recurrent intrahepatic cholestasis), interlobular bile duct paucity (patients with alpha-1 antitrypsin deficiency, hypopituitarism, cystic fibrosis, trihydroxycoprostanic acid excess, childhood primary sclerosing cholangitis, mitochondrial disorders, congenital hepatic fibrosis, congenital syphilis, cytomegalovirus, rubella or hepatitis B infection, childhood autoimmune hepatitis, graft-versus-host disease, primary sclerosing cholangitis, Down syndrome, Zellweger syndrome, Ivemark syndrome, and Smith–Lemli–Opitz syndrome), cardiac defects (ventricular septal defect, tetralogy of Fallot), pulmonary stenosis (RAS-MAPK pathway disorders, deletion 22q11 syndrome, Williams syndrome), pulmonic vascular abnormalities (Noonan syndrome, Watson syndrome, William syndrome, Down syndrome, and LEOPARD syndrome), posterior embryotoxon (Rieger syndrome, Bannayan–Riley–Ruvalcaba syndrome, Axenfeld–Rieger syndrome, and 15% of the general population), germline pathogenic variants (Hajdu–Cheney syndrome with pathogenic gain-of-function variant in NOTCH2 exon 34), and somatic pathogenic variants (splenic marginal zone lymphoma with recurrent somatic pathogenic gain-of-function variants in NOTCH2) [1,2].
Whole-exome screening for primary congenital glaucoma in Lebanon
Published in Ophthalmic Genetics, 2023
Nadine J. Makhoul, Zahi Wehbi, Dalia El Hadi, Baha Noureddine, Rose-Mary Boustany, Christiane Al-Haddad
The ocular drainage system derives from the mesenchyme where the forkhead box C1 gene (FOXC1) is expressed (12). In fact, previous descriptions of FOXC1 gene mutations in PCG patients with anterior segment abnormalities exist, and features of Axenfeld-Rieger spectrum were typically revealed in children with FOXC1 pathogenic variants (12) The p.Q92* mutation of the FOXC1 gene was identified in one patient from this cohort. A Mexican patient with Axenfeld-Rieger syndrome (ARS) (65) and a Vietnamese patient with ASD and congenital glaucoma carried this mutation (16). This mutation leads to a premature termination codon at position 92 of the protein. The truncated region affects the DNA-binding domain and the Nuclear Localization Signal 1 (NLS1) motif of the fork head domain of the FOXC1 protein. An analysis of FOXC1 variants in 133 pedigrees with PCG in 2016 demonstrated that FOXC1 mutations may effect goniodysgenesis in PCG (14). FOXC1 variants were associated with PCG frequently complicated with Axenfeld-Rieger syndrome (hearing loss, heart murmur and developmental delay). Two point mutations of FOXC1 and PITX2 genes were identified in individuals with abnormal development of iris tissue (16). This cohort included a patient who presented at 1 week of age; agreeing with finding mutations in the FOXC1 gene causative of early-onset glaucomas (15). He also has a younger affected brother with PCG and a cousin with signs of Axenfeld-Rieger spectrum: posterior embryotoxon and corectopia.
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy
Published in Ophthalmic Genetics, 2020
Stephanie N. Kletke, Ajoy Vincent, Jason T. Maynes, Uri Elbaz, Kamiar Mireskandari, Wai-Ching Lam, Asim Ali
Axenfeld-Rieger syndrome (ARS; OMIM #180500) is an autosomal dominant disorder characterized by a spectrum of anterior segment dysgenesis including posterior embryotoxon, iris hypoplasia, corectopia, polycoria, iridocorneal adhesions, and an associated 50% risk of glaucoma (1,2). Systemic features include facial anomalies such as maxillary hypoplasia, hypertelorism and telecanthus, dental, pituitary and cardiac abnormalities, as well as redundant periumbilical skin (1,2). ARS occurs secondary to developmental disruption of neural crest-derived tissues. Mutations in several genetic loci have been implicated, most notably in the transcription factor genes PITX2 and FOXC1 (3–12). PITX2, located at 4q25, encodes a paired-bicoid homeodomain transcriptional regulator that is expressed during ocular development (3,4,13,14).
Congenital cavitary optic disc anomaly and Axenfeld’s anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature
Published in Ophthalmic Genetics, 2018
Mohsin H. Ali, Nathalie F. Azar, Vinay Aakalu, Felix Y. Chau, Javaneh Abbasian, Pete Setabutr, Irene H. Maumenee
Microarray analysis using a comparative genomic hybridization and single nucleotide polymorphism (SNP) array revealed an unbalanced translocation between 4p16.3–15.3 (involving the deletion of 20.55 Mb and 387 genes) and Xp22.33-p22.2 (involving the duplication of 16.07 Mb and 186 genes). Several important deleted genes that are hypothesized to be integral to the pathogenesis of Wolf-Hirschhorn syndrome were involved, including WHSC1, NELFA (WHSC2), and LETM1(2). Chromosomal loci that have reported associations with Axenfeld-Rieger syndrome or related anterior segment dysgenesis phenotypes were not affected. The constellation of clinical findings and the genetic analysis confirmed the diagnosis of Wolf-Hirschhorn syndrome.