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Neurology India 2017
Topics: Adolescent; Cysticercosis; Duane Retraction Syndrome; Humans; Magnetic Resonance Imaging; Male; Orbit
PubMed: 28084290
DOI: 10.4103/0028-3886.198232 -
Prilozi (Makedonska Akademija Na... 2015Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a...
Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.
Topics: Abducens Nerve Diseases; Abnormalities, Multiple; Deafness; Duane Retraction Syndrome; Female; Growth Disorders; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Klippel-Feil Syndrome; Lower Extremity Deformities, Congenital; Scoliosis; Severity of Illness Index; Torticollis; Upper Extremity Deformities, Congenital; Young Adult
PubMed: 26076792
DOI: 10.1515/prilozi-2015-0047 -
Indian Journal of Ophthalmology Jul 2020A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia...
A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia manifesting novel dysinnervation encompassing synergistic divergence with upshoot, convergence on attempted upgaze, gaze-evoked phasic conjugate torsion, and gaze-evoked nystagmus. Congenital third nucleus/nerve hypoplasia with secondary dysinnervation is classfied as congenital cranial dysinnervation disorder (CCDD). It is speculated that miswiring between prenuclear structures, otolithic pathways, interstitial nucleus of Cajal (INC), nucleus prepositus hypoglossi, and third and sixth nerve nuclei likely resulted in this novel dysinnervation. Cryptorchidism and renal aplasia if seen may point towards an overlapping phenotype with Duane-radial ray syndrome and acro-renal-ocular/IVIC syndromes.
Topics: Child; Duane Retraction Syndrome; Humans; Male; Oculomotor Muscles; Oculomotor Nerve; Oculomotor Nerve Diseases; Paralysis
PubMed: 32587205
DOI: 10.4103/ijo.IJO_1627_19 -
Zhongguo Dang Dai Er Ke Za Zhi =... Nov 2016Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes,...
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG(p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.
Topics: Alagille Syndrome; Child, Preschool; Humans; Jagged-1 Protein; Male; Mutation
PubMed: 27817779
DOI: 10.7499/j.issn.1008-8830.2016.11.015 -
Frontiers in Genetics 2024Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable...
Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, and have been identified to cause MBS. We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a missense variant c.643G>A; p.Gly215Arg in , encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Our findings support that pathogenic variants in the gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include in the genetic diagnoses of MBS.
PubMed: 38356699
DOI: 10.3389/fgene.2024.1291063 -
Genomics Sep 2014Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is the only gene known to be responsible for BPES. The majority of BPES patients show intragenic mutations of FOXL2. Recently, a 7.4 kb sequence disruption, which was 283 kb upstream of FOXL2, was identified to independently contribute to the BPES phenotype. Several breakpoints nearing FOXL2 (0 Mb to 1.2 Mb, several of which were distant from the 7.4 kb sequence disruption) have been mapped or deduced through a traditional method in BPES patients with chromosome reciprocal translocation. In this study, two BPES families with chromosome reciprocal translocation were investigated. Intragenic mutations of FOXL2 or pathogenic copy number variations were excluded for the two BPES families. All of the four breakpoints were identified at a base-precise manner using Giemsa banding and whole genome low-coverage sequencing (WGLCS). In family 01, the breakpoints were found at chr1:95,609,998 and chr3:138,879, 114 (213,132 bp upstream of FOXL2). In family 02, the breakpoints were located at chr3:138,665,431 (intragenic disruptions of FOXL2) and chr20:56,924,609. Results indicate that the intragenic and extragenic interruptions of FOXL2 can be accurately and rapidly detected using WGLCS. In addition, both the 213 kb upstream and intragenic interruptions of FOXL2 can cause BPES phenotype.
Topics: Base Sequence; Blepharophimosis; Child, Preschool; Chromosome Breakpoints; Duane Retraction Syndrome; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; Genome, Human; Humans; Male; Molecular Sequence Data; Pedigree; Translocation, Genetic; Twins, Monozygotic
PubMed: 25086333
DOI: 10.1016/j.ygeno.2014.07.010