Nonlethal presentations of CYP26B1 ‐related skeletal anomalies and multiple synostoses syndrome

2021 ◽  
Author(s):  
Katheryn Grand ◽  
Cara M. Skraban ◽  
Jennifer L. Cohen ◽  
Leah Dowsett ◽  
Sarah Mazzola ◽  
...  
Keyword(s):  
Skeletal Anomalies

Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: A new ofds form?

1994 ◽  
Vol 53 (3) ◽  
pp. 290-293 ◽  
Author(s):  
Orazio Gabrielli ◽  
Anna Ficcadenti ◽  
Giancarlo Fabrizzi ◽  
Paolo Perri ◽  
Antonio Mercuri ◽  
...  
Keyword(s):  
Psychomotor Delay ◽  
Skeletal Anomalies

scholarly journals Monitoring Skeletal Anomalies in Big-Scale Sand Smelt, Atherina boyeri, as a Potential Complementary Tool for Early Detection of Effects of Anthropic Pressure in Coastal Lagoons

Water ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 159
Author(s):  
Chiara Leone ◽  
Francesca De Luca ◽  
Eleonora Ciccotti ◽  
Arianna Martini ◽  
Clara Boglione
Keyword(s):  
Early Detection ◽  
Habitat Degradation ◽  
Anthropogenic Impacts ◽  
Coastal Lagoons ◽  
Ecological Status ◽  
Detection Methods ◽  
Anthropogenic Pressures ◽  
Morphological Examination ◽  
Skeletal Anomalies

Mediterranean coastal lagoons are increasingly affected by several threats, all concurrently leading to habitat degradation and loss. Methods based on fish for the assessment of the ecological status are under implementation for the Water Framework Directive requirements, to assess the overall quality of coastal lagoons. Complementary tools based on the use of single fish species as biological indicators could be useful as early detection methods of anthropogenic impacts. The analysis of skeletal anomalies in the big-scale sand smelt, Atherina boyeri, from nine Mediterranean coastal lagoons in Italy was carried out. Along with the morphological examination of fish, the environmental status of the nine lagoons was evaluated using a method based on expert judgement, by selecting and quantifying several environmental descriptors of direct and indirect human pressures acting on lagoon ecosystems. The average individual anomaly load and the frequency of individuals with severe anomalies allow to discriminate big-scale sand smelt samples on the basis of the site and of its quality status. Furthermore, a relationship between skeletal anomalies and the environmental quality of specific lagoons, driven by the anthropogenic pressures acting on them, was found. These findings support the potentiality of skeletal anomalies monitoring in big-scale sand smelt as a tool for early detection of anthropogenic impacts in coastal lagoons of the Mediterranean region.

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

1998 ◽  
Vol 80 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Alex Duval ◽  
Odile Boute ◽  
Louise Devisme ◽  
Anne S. Valat ◽  
Sylvie Manouvrier
Keyword(s):  
Autosomal Recessive ◽  
Skeletal Anomalies

THE XYY CONDITION IN CHILDHOOD: CLINICAL OBSERVATIONS

PEDIATRICS ◽  
1969 ◽  
Vol 43 (5) ◽  
pp. 852-857
Author(s):  
Richard F. Daly ◽  
Raymond W. M. Chun ◽  
Stanley Ewanowski ◽  
Richard H. Osborne
Keyword(s):  
Mental Retardation ◽  
Sampling Methods ◽  
Chromosome Complement ◽  
Physical Characteristics ◽  
School Environments ◽  
Skeletal Anomalies ◽  
Clinical Observations ◽  
Average Intelligence ◽  
Home And School

The 47,XYY chromosome complement was found in the lymphocytes of a 6-year-old white boy of average intelligence. He seems well adjusted to home and school environments. He is extremely tall for his age, has an articulation problem, impaired coordination, and muscular and skeletal anomalies. Although he has had a hydrocoele repaired, his genitalia are otherwise normal. Mental retardation and genital maldevelopment have been quite common in the few reported cases of the XYY condition in children, but this may be partially due to sampling methods. It is apparent that the mental and physical characteristics of the average XYY boy are yet to be determined.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

2021 ◽  
Author(s):  
Lucia Sentchordi-Montané ◽  
Sara Benito-Sanz ◽  
Miriam Aza-Carmona ◽  
Francisca Díaz-González ◽  
Silvia Modamio-Høybjør ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Genetic Defect ◽  
Radiological Feature ◽  
Molecular Defect ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Radiological Data ◽  
High Prevalence ◽  
Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

Common congenital skeletal anomalies of the thorax

1986 ◽  
Vol 4 (1) ◽  
pp. 1-6 ◽  
Author(s):  
H. Theodore Harcke ◽  
Leslie E. Grissom ◽  
Myung Soo Lee ◽  
Gerald A. Mandell
Keyword(s):  
Skeletal Anomalies

Atrial Septal Defect Associated with Skeletal Anomalies (Holt-Oram Syndrome)

CHEST Journal ◽  
1970 ◽  
Vol 57 (3) ◽  
pp. 230-233 ◽  
Author(s):  
H.C. Moguilevsky ◽  
M.V. O'Reilly ◽  
H. Dizadji ◽  
A.B. Shaffer
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Skeletal Anomalies
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