scholarly journals Congenital Methemoglobinemia with Multiple Limb Anomalies in an 11-Year-Old Boy

2020 ◽  
Vol 7 (10) ◽  
Author(s):  
Agarwal Sheetal ◽  
Singh Dhirendra ◽  
Agarwal Ankur ◽  
Sharma Ridhima ◽  
Singh Savitri
Keyword(s):  
Limb Anomalies

Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

2013 ◽  
Vol 97 (12) ◽  
pp. 798-805 ◽  
Author(s):  
Diana Carli ◽  
Tracy Fairplay ◽  
Paola Ferrari ◽  
Silvana Sartini ◽  
Mario Lando ◽  
...  
Keyword(s):  
Upper Limb ◽  
Genetic Basis ◽  
Limb Anomalies

Parents' experiences of splinting programs for babies with congenital limb anomalies

2015 ◽  
Vol 8 (3) ◽  
pp. 207-217 ◽  
Author(s):  
Kim M. Durlacher ◽  
Cynthia Verchere ◽  
Jill G. Zwicker
Keyword(s):  
Limb Anomalies ◽  
Congenital Limb ◽  
Parents Experiences

scholarly journals Facial Clefts and Associated Limb Anomalies: Description of Three Cases and a Review of the Literature

2010 ◽  
Vol 47 (6) ◽  
pp. 661-667 ◽  
Author(s):  
M.C. Obdeijn ◽  
P.J. Offringa ◽  
R.R.M. Bos ◽  
A.A.E. Verhagen ◽  
F.B. Niessen ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Limb Anomalies ◽  
Facial Clefts

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus

2018 ◽  
Vol 22 (2) ◽  
pp. 146-151
Author(s):  
Aude Tessier ◽  
Patrick Callier ◽  
Nathalie LeMeur ◽  
Thierry Frebourg ◽  
Jean-Christophe Sabourin ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Great Artery ◽  
Human Case ◽  
Pelvic Kidney ◽  
Cardiac Malformation ◽  
Male Fetus ◽  
Postmortem Diagnosis ◽  
Limb Defects ◽  
The Third ◽  
Limb Anomalies

We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

2019 ◽  
Vol 95 (4) ◽  
pp. 534-536 ◽  
Author(s):  
Alina T. Midro ◽  
Niels Tommerup ◽  
Jan Borys ◽  
Barbara Panasiuk ◽  
Bożena Kosztyła-Hojna ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Silver Russell Syndrome

Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

2014 ◽  
Vol 1 (3) ◽  
pp. 151-157 ◽  
Author(s):  
Udhaya H. Kotecha ◽  
Ratna D. Puri ◽  
Pratima Dash ◽  
Sunita Bijarnia-Mahay ◽  
Meena Lall ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Fetal Autopsy ◽  
Limb Anomalies

scholarly journals Documenting Combined Congenital Upper Limb Anomalies Using the Oberg, Manske, and Tonkin Classification: Implications for Epidemiological Research and Outcome Comparisons

2018 ◽  
Vol 43 (9) ◽  
pp. 869.e1-869.e11 ◽  
Author(s):  
Martijn Baas ◽  
Pieter R. Zwanenburg ◽  
Steven E.R. Hovius ◽  
Christianne A. van Nieuwenhoven
Keyword(s):  
Upper Limb ◽  
Epidemiological Research ◽  
Limb Anomalies
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