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https://www.readbyqxmd.com/read/24285566/ciliary-genes-tbc1d32-c6orf170-and-sclt1-are-mutated-in-patients-with-ofd-type-ix
#1
Nouran Adly, Amal Alhashem, Amer Ammari, Fowzan S Alkuraya
Clinical syndromes caused by defects in the primary cilium are heterogeneous but there are recurrent phenotypic manifestations that define them as a collective group known as ciliopathies. Dozens of genes have been linked to various ciliopathies but large patient cohorts have clearly revealed the existence of additional genetic heterogeneity, which is yet to be fully appreciated. In our search for novel ciliopathy-linked genes through the study of unmapped ciliopathy phenotypes, we have identified two simplex cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX featuring midline cleft, microcephaly, and colobomatous microphathalmia/anophthalmia...
January 2014: Human Mutation
https://www.readbyqxmd.com/read/23777026/oro-facial-digital-syndrome-type-ii
#2
Meenakshi Kalyan, S Kanitkar, Robby John, G Gireesh, Amit Bhate, M Mithun
Oro-facial-digital syndrome type II (OFD-II) is characterized by frenulated tongue, midline cleft lip, high arched or cleft palate, micrognathia, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss, choroidal coloboma and normal intelligence. There are nine forms of oro-facial-digital syndromes with different modes of inheritance. A young female with features of oro-facio-digital syndrome type-II is being reported.
October 2012: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/20512146/mutations-in-tmem216-perturb-ciliogenesis-and-cause-joubert-meckel-and-related-syndromes
#3
Enza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C Tolentino, Dominika Swistun, Carmelo D Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A Otto, Susanne Held, Bill H Diplas, Erica E Davis, Mario Mikula, Charles M Strom, Bruria Ben-Zeev, Dorit Lev, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A Johnson, Tania Attié-Bitach, Joseph G Gleeson
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS. A single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent (n=10)...
July 2010: Nature Genetics
https://www.readbyqxmd.com/read/19579742/mohr-claussen-syndrome-or-oro-facial-digital-syndrome-ofds-type-ii
#4
Arnab Biswas, Jayanta K Ghosh, Malay K R Sinha, Kaberi Basu, Sukanta Chatterjee
The Mohr-Claussen syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by tongue lobulation, midline cleft lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients...
July 2009: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/17405618/oro-facio-digital-syndrome-type-1-imaging-findings-in-an-11-year-old-girl
#5
B Termote, G Verswijvel, Y Palmers
We describe a uniquely illustrated case of orofaciodigital syndrome type 1. We document many of the possible features of this disorder in a young girl using multiple imaging modalities. Furthermore, we prove that the cysts in kidney and liver are not in contact with the excretory system using MRI, something that to our knowledge has not been previously reported.
January 2007: JBR-BTR: Organe de la Société Royale Belge de Radiologie (SRBR)
https://www.readbyqxmd.com/read/16906567/prenatal-diagnosis-of-episodic-tachypnea-in-an-infant-with-ofd-vi
#6
Elizabeth McPherson, Christina Zaleski, Maria Mascola
Episodic tachypnea is a typical neonatal presentation of Joubert syndrome, but may also occur in infants with other anomalies of the cerebellar vermis. Even though fetuses at risk for Joubert syndrome are usually closely followed by ultrasound, this respiratory pattern has only once been described prenatally. We describe a patient who presented prenatally with posterior meningocele, Dandy-Walker cyst, and four limb polydactyly on ultrasound. Amniocentesis showed a normal male karyotype and normal 7DHC. At 31 weeks, episodic fetal tachypnea was noted on ultrasound...
October 1, 2006: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/16155422/periventricular-neuronal-heterotopia-oro-facio-digital-anomalies-and-microphthalmia-a-new-syndrome
#7
Carlos H B C Castro, Patrícia Z Freitas, Melissa Z Antoneli, Giselda Santiago, Lucilene A Ribeiro, Antonio Richieri-Costa
Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique...
October 2005: Clinical Dysmorphology
https://www.readbyqxmd.com/read/15844787/hypothalamic-hamartoma-cerebellar-hypoplasia-facial-dysmorphism-and-very-atypical-combination-of-polydactyly-is-it-a-new-variant-of-oro-facio-digital-syndrome
#8
A Okten, L Mungan, F Orhan, M Cakir
We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi)...
2005: Genetic Counseling
https://www.readbyqxmd.com/read/15057576/meningitis-due-to-haemophilus-influenzae-type-f-in-an-8-year-old-girl-with-congenital-humoral-immunodeficiency
#9
REVIEW
K Fickweiler, M Borte, M Fasshauer, F-B Spencker, W Handrick, A C Rodloff
We report on an 8-year-old Haemophilus influenzae type b-vaccinated girl with meningitis due to H. influenzae type f. The girl had an oro-facio-digital syndrome and a hypogammaglobulinemia, obviously predisposing the patient to invasive infections. Treatment with cefotaxime was successful.Incidence, predisposing factors and the influence of H. influenzae type b immunization on invasive infections with non-type b H. influenzae strains in children are discussed.
April 2004: Infection
https://www.readbyqxmd.com/read/14140316/-the-oro-facio-digital-syndrome
#10
REVIEW
F FREYCON, M T FREYCON
No abstract text is available yet for this article.
March 1964: Pédiatrie
https://www.readbyqxmd.com/read/12119212/long-term-follow-up-of-a-girl-with-oro-facio-digital-syndrome-type-i-due-to-a-mutation-in-the-ofd-1-gene
#11
C Stoll, P Sauvage
In 1954, Papillon-Léage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected...
April 2002: Annales de Génétique
https://www.readbyqxmd.com/read/11528805/-oro-facio-digital-syndrome
#12
REVIEW
K Naritomi
No abstract text is available yet for this article.
2001: Ryōikibetsu Shōkōgun Shirīzu
https://www.readbyqxmd.com/read/10734352/mohr-syndrome-a-rare-case-and-distinction-from-orofacial-digital-syndrome-1
#13
H S Hosalkar, H Shah, P Gujar, A Kulkarni, M G Yagnik
In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients. A case of type II oro-facio-digital syndrome is being reported and the distinguishing clinicoradiological features with type I are compared.
October 1999: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/10469425/what-syndrome-is-this-oro-facio-digital-type-1-syndrome-of-papillon-l%C3%A3-age-and-psaume
#14
A Patrizi, C Orlandi, I Neri, F Bardazzi, G Cocchi
No abstract text is available yet for this article.
July 1999: Pediatric Dermatology
https://www.readbyqxmd.com/read/10398784/fetal-polycystic-kidney-disease-in-oro-facio-digital-syndrome-type-i
#15
G Nishimura, S Kuwashima, T Kohno, C Teramoto, H Watanabe, T Kubota
We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male...
July 1999: Pediatric Radiology
https://www.readbyqxmd.com/read/10096682/a-prehistoric-example-of-polydactyly-from-the-iron-age-site-of-simbusenga-zambia
#16
K A Murphy
Human burials, dated AD 1100-1500, were examined from the Iron Age site of Simbusenga, located some 35 miles northwest of Victoria Falls in Zambia. Pedal polydactyly was discovered in the fragmentary remains of a young adult of indeterminate sex aged 14-25. The preaxial form of polydactyly is indicated with bilateral involvement of the first metatarsals. There is incomplete hypoplastic duplication of both first metatarsals with broad heads for the metatarsal-phalangeal joints. No digital malformations were found in the other seven individuals with feet and/or hands from the site...
March 1999: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/9605284/congenital-anomalies-in-the-teratological-collection-of-museum-vrolik-in-amsterdam-the-netherlands-i-syndromes-with-multiple-congenital-anomalies
#17
R J Oostra, B Baljet, P F Dijkstra, R C Hennekam
The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings...
May 1, 1998: American Journal of Medical Genetics
https://www.readbyqxmd.com/read/9482645/central-nervous-system-malformations-and-early-end-stage-renal-disease-in-oro-facio-digital-syndrome-type-i-a-review
#18
REVIEW
S Odent, B Le Marec, A Toutain, A David, J Vigneron, C Tréguier, H Jouan, J Milon, J P Fryns, A Verloes
Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1. In one case, vermis hypoplasia was present; in another, periventricular heterotopiae were noted. We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain...
February 3, 1998: American Journal of Medical Genetics
https://www.readbyqxmd.com/read/8215219/a-distinct-multiple-congenital-anomalies-syndrome-associated-with-distal-5q-deletion-q35-1qter
#19
A Kleczkowska, J P Fryns, H van den Berghe
In this report the authors describe a multimalformed female newborn with terminal deletion of the long arm of chromosome 5 (q35.1qter). The multiple congenital anomaly syndrome consisted of a combination of oral, facial and digital anomalies. The present observation indicates that cytogenetic studies are needed in all patients presenting developmental delay and oro-facio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.
1993: Annales de Génétique
https://www.readbyqxmd.com/read/8172251/congenital-abnormalities-associated-with-limb-deficiency-defects-a-population-study-based-on-cases-from-the-hungarian-congenital-malformation-registry-1975-1984
#20
REVIEW
J A Evans, M Vitez, A Czeizel
Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects...
January 1, 1994: American Journal of Medical Genetics
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