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Original Research. Correlation Between Cranial Base Morphology And Various Types Of Skeletal Anomalies

. Șerbănescu A, Corega C, Corega MA. Teleradiografia în ortodonție. Cluj- Napoca: Editura Medicală Universitară ”Iuliu Hațieganu”, 2008; p. 1-28. 5. Arvidson LZ, Fjeld MG, Smith HJ, Flatø B, Ogaard B, Larheim TA. Craniofacial growth disturbance is related to temporomandibular joint abnormality in patients with juvenile idiopathic arthritis, but normal facial profile was also found at the 27-year follow-up. Scand J Rheumatol. 2010;39:373-379. 6. Laue K, Pogoda HM, Daniel PB, et al. Craniosynostosis and multiple skeletal anomalies in humans and

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Gorlin's Syndrome: Case Report and Management Protocol

Gorlin's Syndrome: Case Report and Management Protocol

Gorlin's syndrome (GS) is a rare autosomal, dominant syndrome, characterized by multiple basal cell carcinomas, odontogenic keratocysts, a characteristic facial appearance, skeletal anomalies and malignancies of various organs throughout the body. We describe a 14-year-old girl with GS and propose a management protocol.

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Mosaicism of Trisomy of 16 Pairs of Chromosomes with Partial Situs Inversus and Levocardia Observation of Extremely Rare Anomaly from 1st Trimester to Neonatal Period- Case Report

Abstract

This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.

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A systematic clinical review of prenatally diagnosed tetrasomy 9p

Abstract

Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosome 9p, duplication 9p prenatal, trisomy 9p prenatal. Reported cases were included if the clinical presentation and diagnostic approach of each case was clearly described. The most common characteristics of prenatally-detected tetrasomy 9p are intrauterine growth retardation (IUGR, 57.0%), central nervous system (CNS) abnormalities (59.0%), skeletal anomalies (29.0%), genitourinary and renal anomalies (29.0%) and cardiac defects (29.0%). The phenotypic spectrum of tetrasomy 9p is rather unspecific as these findings are commonly associated with other chromosome anomalies, as well as microdeletion/microduplication or monogenic syndromes. The combination of early fetal morphology and diagnostic genetic testing enables a definite tetrasomy 9p diagnosis and effective further pregnancy management.

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Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

symptoms reported in individuals with FHS include skeletal anomalies (brachydactyly, fifth finger clinodactyly, 11 pairs of ribs, kyphoscoliosis), congenital heart malformations (aortic coarctation, atrial septal defect, tetralogy of Fallot), gastrointestinal features (motility problems, celiac disease), genitourinary abnormalities (kidney agenesis, renal cysts, hydronephrosis, precocious puberty, cryptorchidism, hypospadias), dental anomalies (supernumerary teeth, microdontia, malocclusion, delayed loss of primary teeth), ear anomalies (recurrent otitis media

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Consecutive repetition of lordosis-kyphosis in silverside Atherina boyeri Risso, 1810 collected from a wild population in Homa Lagoon, Izmir, Turkey

the polluted Izmir Bay, Aegean Sea – Mar. Environ. Res. 49: 101-122. Boglione C., Gagliardi G., Scardi M., Cataudella S. 2001 – Skeletal descriptors and quality assessment in larvae and post-larvae of wild-caught and hatchery-reared gilthead sea bream ( Sparus aurata L. 1758) – Aquaculture 192: 1-22. Boglione C., Gavaia P., Koumoundouros G., Gisbert E., Moren M., Fontagne S. 2013 – Skeletal anomalies in reared European fish larvae and juveniles. Part 1: normal and anomalous skeletogenic processes – Rev. Aquacult. 5: 99-120. Boglione C., Marino G

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Incidences of caudal fin malformation in fishes from Jubail City, Saudi Arabia, Arabian Gulf

in the Gulf of Bothnia - J. Fish Biol. 33; 517-529. Berra T.M., Au R.J. 1981 - Incidence of teratological fishes from Cedar Fork creek, Ohio - Ohio J. Sci. 81: 225-229. Boglione C., Costa C., Giganti M., Cecchetti M., Di Dato P., Scardi M., Cataudella S. 2006 - Biological monitoring of wild thicklip grey mullet (Chelon labrosus), golden grey mullet (Liza aurata), thinlip mullet (Liza ramada) and flathead mullet (Mugil cephalus) (Pisces: Mugilidae) from different Adriatic sites: meristic counts and skeletal anomalies - Ecol. Indic. 6

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Late Onset of Multiple Basal Cell Carcinomas in a Patient with Gorlin-Goltz Syndrome Previously Treated for Hodgkin’s Lymphoma/ Kasna pojava multiplog bazocelularnog karcinoma kod pacijenta sa Gorlin-Golcovim sindromom prethodno lečenog od Hočkinovog limfoma

. Binkley GW, Johnson HH. Epithelioma adenoides cysticum: basal cell nevi, agenesis of the corpus callosum and dental cysts: a clinical and autopsy study. AMA Arch Dermatol Syphiol. 1951;63:73-84. 15. Gorlin RJ, Yunis JJ, Tuna N. Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies: a syndrome. Acta Derm Venereol. 1963;43:39-55. 16. Gorlin RJ, Vickers RA, Kelln E, Williamson JJ. Multiple basal cell nevi syndrome. An analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal

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Atlanto-Axial Instability in People with Down’s Syndrome and its Impact on the Ability to Perform Sports Activities – A Review

, Gelch MM, Senft KE, Scola FH, Goldberg MJ. Symptomatic atlantoaxial subluxation in persons with Down syndrome. J Pediatr Orthop , 1984; 4: 682-688 Pueschel SM, Scola FH, Tupper TB, Pezzullo JC. Skeletal anomalies of the upper cervical spine in children with Down syndrome. J Pediatr Orthop , 1990; 10: 607–611 Pueschel SM, Scola FH, Pezzullo JC. A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome. Pediatrics , 1992a; 89: 1194-1198 Pueschel SM, Moon AC, Scola FH. Computerized tomography in persons with

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The Many Faces of Oral-Facial-Digital Syndrome

, Valdes Flores M, Garcia-Cavazos R, Kofman-Alfaro S, Saavedra-Ontiveros D. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? Clin Dysmorphol. 1998; 7(1): 55-57. Gabrielli O, Ficcadenti A, Fabrizzi G, Perri P, Mercuri A, Coppa GV, Giorgi P. Child with oral, facial, digital and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet. 1994; 53(3): 290-293. Degner D, Bleich S, Riegel A, Rüther E. [Orofacial-digital syndrome - a new

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