Read by QxMD icon Read


Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal (MOTA) syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated CO, while the other with unilateral CO and renal agenesis. A novel homozygous mutation (c...
April 24, 2018: Human Molecular Genetics
Y Hassona, H Kharoub, C Scully
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22-year-old girl with Fraser syndrome, and discuss the dental management.
September 2017: Special Care in Dentistry
J Ding, Z Hou, Y Li, N Lu, D Li
PurposeAbortive cryptophthalmos is a rare congenital eyelid anomaly with poor prognosis for vision and cosmesis. The study aims to present its varied manifestations and surgical outcomes.Patients and methodsThe medical records of patients with abortive cryptophthalmos treated at the Oculoplastic Clinic of Beijing Tongren Hospital between January 2004 and May 2016 were reviewed. Early surgical intervention was performed when exposure keratopathy occurs. Upper eyelid and superior fornix were mainly reconstructed with sliding myocutaneous flap and scleral and amniotic grafts...
November 2017: Eye
Giuseppe De Bernardo, Maurizio Giordano, Antonino Di Toro, Desiree Sordino, Daniele De Brasi
BACKGROUND: Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is crucial to get prenatal diagnosis early on in the pregnancy. CASE PRESENTATION: We are reporting a female infant born by natural birth with 46,XX. She was characterized phenotypically by cryptophthalmos, syndactyly, bilateral microtia and ambiguous genitalia...
November 9, 2015: Italian Journal of Pediatrics
Adnan Aslam Saleem, Sorath Noorani Siddiqui
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy...
October 2015: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Farzad Izadi, Aslan Ahmadi, Hosna Zobairy, Sepideh Bakhti, Hengameh Hirbod, Mahdi Safdarian
Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients. In this paper, we report two cases of Fraser syndrome with laryngeal webs. One of them was a twelve-year-old girl, primarily diagnosed with a supraglottic laryngeal web. In the course of treatment, a second web was also identified at the level of vocal cords, which is to our knowledge the first case of Fraser syndrome with two laryngeal webs in different levels...
November 2015: International Journal of Pediatric Otorhinolaryngology
Sushank Ashok Bhalerao, Mahesh Tandon, Satyaprakash Singh, Shraddha Dwivedi, Santosh Kumar, Jagriti Rana
BACKGROUND/AIMS: Information on eye diseases in blind school children in Allahabad is rare and sketchy. A cross-sectional study was performed to identify causes of blindness (BL) in blind school children with an aim to gather information on ocular morbidity in the blind schools in Allahabad and in its vicinity. STUDY DESIGN AND SETTING: A cross-sectional study was carried out in all the four blind schools in Allahabad and its vicinity. MATERIALS AND METHODS: The students in the blind schools visited were included in the study and informed consents from parents were obtained...
March 2015: Indian Journal of Ophthalmology
Ann Q Tran, Bradford W Lee, Ramzi M Alameddine, Bobby S Korn, Don O Kikkawa
A full-term baby girl with Fraser syndrome was born with right incomplete cryptophthalmos. On examination, the globe was completely covered with skin with partially formed eyelids laterally. At 3 years of age, she underwent an evisceration with orbital implant and reconstruction of the eyelids and fornices using the pre-existing scleral remnant. Custom ocular prosthetic fitting was performed 5 weeks postoperatively. At 4 years follow up, she continued to successfully retain an ocular prosthesis.
May 2017: Ophthalmic Plastic and Reconstructive Surgery
Ramesh Murthy, Himika Gupta
We report a case of a 2-month-old baby with bilateral nonsyndromic partial cryptophthalmos presenting with upper eyelid incomplete development and fusion to the cornea with resultant inability to close the eyes. He was managed successfully with bilateral upper lid reconstruction with composite graft using maternal skin and oral mucous membrane, amniotic membrane, and donor scleral graft. After this one stage surgery, lids were well-formed, and the patient was able to close both eyes, thus achieving good anatomical, functional, and cosmetic outcome...
November 2014: Indian Journal of Ophthalmology
Jonathan D Mathers, Thomas M Breen, Jonathan H Smith
OBJECTIVES: To perform a retrospective, anesthesia case note review of patients with Fraser syndrome. AIM: To identify the perioperative and postoperative anesthetic management and complications in this patient group. BACKGROUND: Fraser syndrome is a rare, autosomal recessively inherited disorder characterized by cryptophthalmos, cutaneous syndactyly, and ambiguous genitalia. It also has variable association with cardiac, laryngeal, tracheal, and gastrointestinal abnormalities...
December 2014: Paediatric Anaesthesia
Ali Riza Cenk Celebi, Hadi Sasani
Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. It is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Imaging modalities are crucial scanning methods. Cryptophthalmos, cyclopia, synophthalmia and congenital cystic eye should be considered in differential diagnoses. We report two clinical anophthalmic siblings, emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia...
July 28, 2014: World Journal of Radiology
T Mesens, I Witters, J Van Robaeys, H Peeters, J P Fryns
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.
2013: Genetic Counseling
Nirmala Subramanian, Geetha Iyer, Bhaskar Srinivasan
PURPOSE: To report the varied presentation and management of cryptophthalmos and further categorize grades of the congenital symblepharon variant based on the severity of the defect. METHODS: The records of 34 eyes of 25 patients with cryptophthalmos who sought treatment at the authors' tertiary eye care center over a period of 22 years were analyzed. RESULTS: Of the 34 eyes, 25 belonged to the congenital symblepharon variant, which could distinctively be further classified in medial/mild (4), moderate (9), and severe (11) subgroups and the surgical management for each has been outlined...
July 2013: Ophthalmic Plastic and Reconstructive Surgery
Tyler F Beck, Oleg A Shchelochkov, Zhiyin Yu, Bum Jun Kim, Andrés Hernández-García, Hitisha P Zaveri, Colin Bishop, Paul A Overbeek, David W Stockton, Monica J Justice, Daryl A Scott
The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malformations including anteriorly placed anus. A similar constellation of findings-microphthalmia, cryptophthalmos, congenital diaphragmatic hernia, renal agenesis and rectal prolapse-have been described in FREM1-deficient mice...
2013: PloS One
Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Patricia A Boyd, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Anna Latos-Bielenska, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Annette Queisser-Luft, Christine Verellen-Dumoulin, David Stone, Romano Tenconi
Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births)...
May 2013: American Journal of Medical Genetics. Part A
Julia Hoefele, Christian Wilhelm, Monika Schiesser, Reinhold Mack, Uwe Heinrich, Lutz T Weber, Saskia Biskup, Cornelia Daumer-Haas, Hanns-Georg Klein, Imma Rost
Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, syndactyly, and urogenital defects. To date, 250 patients have been described in the literature. Mutations in the FRAS1 gene on chromosome 4 have been identified in patients with Fraser syndrome. So far, 26 mutations have been identified, most of them are truncating mutations. The mutational spectrum includes nucleotide substitutions, splicing defects, a large insertion, and small deletions/insertions...
May 15, 2013: Gene
D Mitter, D Schanze, I Sterker, D Müller, H Till, M Zenker
MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the following features: bilateral incomplete cryptophthalmos with a completely fused, ill-defined upper eyelid and a keratinized cornea, hypertelorism, a broad tip of the nose, a circle-shaped whirl of hair on the forehead, and a low anorectal malformation, which could be corrected on day 2 of life without a colostomy...
September 2012: Molecular Syndromology
Robertino Karlo Mateo, Royce Johnson, Ordan J Lehmann
PURPOSE: Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined. METHODS: Homozygosity analysis was employed to map the causative locus using DNA samples from four probands of Cree ancestry. After single nucleotide polymorphism (SNP) genotyping, data were analyzed and exported to PLINK to identify regions identical by descent (IBD) and common to the probands...
2012: Molecular Vision
Daiji Kiyozumi, Makiko Takeichi, Itsuko Nakano, Yuya Sato, Tomohiko Fukuda, Kiyotoshi Sekiguchi
Dysfunction of the basement membrane protein QBRICK provokes Fraser syndrome, which results in renal dysmorphogenesis, cryptophthalmos, syndactyly, and dystrophic epidermolysis bullosa through unknown mechanisms. Here, we show that integrin α8β1 binding to basement membranes was significantly impaired in Qbrick-null mice. This impaired integrin α8β1 binding was not a direct consequence of the loss of QBRICK, which itself is a ligand of integrin α8β1, because knock-in mice with a mutation in the integrin-binding site of QBRICK developed normally and do not exhibit any defects in integrin α8β1 binding...
May 28, 2012: Journal of Cell Biology
Maartje J Vogel, Patrick van Zon, Louise Brueton, Marleen Gijzen, Marc C van Tuil, Phillip Cox, Denny Schanze, Ariana Kariminejad, Siavash Ghaderi-Sohi, Edward Blair, Martin Zenker, Peter J Scambler, Hans Kristian Ploos van Amstel, Mieke M van Haelst
BACKGROUND: Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS. Both FRAS1 and FREM2 encode extracellular matrix proteins that are essential for the adhesion between epidermal basement membrane and the underlying dermal connective tissues during embryonic development. Mutations in murine Grip1, which encodes a scaffolding protein that interacts with Fras1/Frem proteins, result in FS-like defects in mice...
May 2012: Journal of Medical Genetics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"