Coronal and sagittal clefts in skeletal dysplasias

1998 ◽  
Vol 28 (10) ◽  
pp. 764-770 ◽  
Author(s):  
J. Westvik ◽  
Ralph S. Lachman
Keyword(s):  
Skeletal Dysplasias

Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

2021 ◽  
Vol 132 ◽  
pp. S221-S222
Author(s):  
Alicia Scocchia ◽  
Tiia Kangas-Kontio ◽  
Liisa Pelttari ◽  
Kim Gall ◽  
Inka Saarinen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Utility ◽  
Next Generation ◽  
Skeletal Dysplasias ◽  
Generation Sequencing

Skeletal dysplasias in Latin America

2020 ◽  
Vol 184 (4) ◽  
pp. 986-995 ◽  
Author(s):  
Denise P. Cavalcanti ◽  
Virginia Fano ◽  
Cecilia Mellado ◽  
Maria Dora J. Lacarrubba‐Flores ◽  
Cynthia Silveira ◽  
...  
Keyword(s):  
Latin America ◽  
Skeletal Dysplasias

Skeletal dysplasias and syndromes

2011 ◽  
pp. 292-322
Author(s):  
Keith A. Kronemer ◽  
Thomas E. Herman
Keyword(s):  
Skeletal Dysplasias

scholarly journals Dermatoglyphs in skeletal dysplasias.

1977 ◽  
Vol 53 (622) ◽  
pp. 438-440 ◽  
Author(s):  
T. J. David
Keyword(s):  
Skeletal Dysplasias

Usefulness of a short femur in the in utero detection of skeletal dysplasias.

Radiology ◽  
1990 ◽  
Vol 177 (1) ◽  
pp. 197-200 ◽  
Author(s):  
A B Kurtz ◽  
L Needleman ◽  
R J Wapner ◽  
P Hilpert ◽  
K Kuhlman ◽  
...  
Keyword(s):  
In Utero ◽  
Skeletal Dysplasias

scholarly journals Congenital and Developmental Abnormalities of the Hand and Wrist

2021 ◽  
Vol 25 (02) ◽  
pp. 260-271
Author(s):  
Filip M. Vanhoenacker ◽  
Paolo Simoni ◽  
Frederik Bosmans ◽  
Nathalie Boutry
Keyword(s):  
Genetic Counseling ◽  
Correct Diagnosis ◽  
Genetic Tests ◽  
Developmental Abnormalities ◽  
Skeletal Dysplasias ◽  
Skeletal Abnormalities

AbstractIdentification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.

Revisiting Skeletal Dysplasias in the Newborn

NeoReviews ◽  
2021 ◽  
Vol 22 (4) ◽  
pp. e216-e229
Author(s):  
Seth J. Langston ◽  
Deborah Krakow ◽  
Alison Chu
Keyword(s):  
Skeletal Dysplasias

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.

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