Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

2010 ◽  
Vol 152A (4) ◽  
pp. 1033-1035 ◽  
Author(s):  
Hideki Fujita ◽  
Tadahiro Yanagi ◽  
Rika Kosaki ◽  
Chiharu Torii ◽  
Masahiro Bamba ◽  
...  
Keyword(s):  
Jacobsen Syndrome ◽  
Limb Defect

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

2003 ◽  
Vol 126A (3) ◽  
pp. 293-298 ◽  
Author(s):  
Dagmar von Bubnoff ◽  
Martina Kreiß-Nachtsheim ◽  
Natalija Novak ◽  
Eva Engels ◽  
Hartmut Engels ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Upper Limb ◽  
Anal Atresia ◽  
Jacobsen Syndrome ◽  
Limb Defect

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

2015 ◽  
Vol 125 (2) ◽  
pp. 387-389 ◽  
Author(s):  
Jamie O. Lo ◽  
Cori D. Feist ◽  
Jason Hashima ◽  
Brian L. Shaffer
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Jacobsen Syndrome

scholarly journals Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Variable Degree ◽  
Jacobsen Syndrome ◽  
Contiguous Gene ◽  
Clinical Consequences ◽  
11Q Deletion

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

scholarly journals Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome

Medicine ◽  
2020 ◽  
Vol 99 (1) ◽  
pp. e18695
Author(s):  
Shuang Chen ◽  
Ruixue Wang ◽  
Xinyue Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Jacobsen Syndrome

Unilateral Transverse Arm Defect with Subterminal Digital Nubbins

2003 ◽  
Vol 6 (4) ◽  
pp. 348-354 ◽  
Author(s):  
Ronny I. Drapkin ◽  
David R. Genest ◽  
Lewis B. Holmes ◽  
Taosheng Huang ◽  
Sara O. Vargas
Keyword(s):  
Histologic Examination ◽  
Second Trimester ◽  
Limb Defects ◽  
Pathologic Evaluation ◽  
Limb Defect ◽  
Rare Phenotype

We present a case of unilateral terminal transverse forearm deficiency with subterminal digit-like nubbins, identified in a fetus from a pregnancy terminated electively in the second trimester because the distal right arm and hand could not be seen by ultrasound and were presumed to be absent. Pathologic evaluation showed distal transverse shortening, tapering to a point in the mid-forearm. Five primitive digital nubbins were present, located just proximal to the tapered point. The arm vessels appeared normal histologically, and the amnion showed no evidence of intrauterine disruption. Histologic examination of the nubbins revealed osteocartilaginous tissue, never described previously within digital nubbins. This fetus has the rare phenotype of terminal transverse limb defects with residual nubbins, but differs in that the nubbins are not at the tip of the terminal transverse limb defect.

scholarly journals Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Joana Pauleta ◽  
Maria Antonieta Melo ◽  
Luís Mendes Graça
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Obstetric Complications ◽  
Long Bone ◽  
Functional Impact ◽  
Limb Defect

Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis.Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided.Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated.

Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

1992 ◽  
Vol 88 (6) ◽  
pp. 661-667 ◽  
Author(s):  
J. O. Van Hemel ◽  
B. Eussen ◽  
E. Wesby-van Swaay ◽  
B. A. Oostra
Keyword(s):  
Molecular Detection ◽  
Jacobsen Syndrome

scholarly journals Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome

2015 ◽  
Vol 185 (7) ◽  
pp. 1867-1876 ◽  
Author(s):  
Marina R. Carpinelli ◽  
Elizabeth A. Kruse ◽  
Benedicta D. Arhatari ◽  
Marlyse A. Debrincat ◽  
Jacqueline M. Ogier ◽  
...  
Keyword(s):  
Middle Ear ◽  
Jacobsen Syndrome

Jacobsen Syndrome

2020 ◽  
pp. 413-417
Author(s):  
Virgil A. S. H. Dalm
Keyword(s):  
Jacobsen Syndrome
Sign in / Sign up

Export Citation Format

Share Document