scholarly journals Mechanism of midline defect-causing mutation P151L in MID1 revealed

FEBS Journal ◽  
2017 ◽  
Vol 284 (14) ◽  
pp. 2167-2169
Author(s):  
Linda K. Nicholson
Keyword(s):  
Midline Defect

Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases

1988 ◽  
Vol 29 (3) ◽  
pp. 477-482 ◽  
Author(s):  
G. Neri ◽  
V. Sammito ◽  
C. Romano ◽  
S. Sanfilippo ◽  
J. M. Opitz ◽  
...  
Keyword(s):  
Fetal Alcohol Syndrome ◽  
Fetal Alcohol ◽  
Midline Defect ◽  
Facial Midline ◽  
Clinical Cases

Selected Midline Defect Associations: A Population Study

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 266-272
Author(s):  
Muin J. Khoury ◽  
José F. Cordero ◽  
Joseph Mulinare ◽  
John M. Opitz
Keyword(s):  
Cleft Palate ◽  
Esophageal Atresia ◽  
Diaphragmatic Hernia ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Imperforate Anus ◽  
Tracheoesophageal Fistula ◽  
Congenital Defects ◽  
Midline Defect ◽  
Midline Defects

Using data from the population-based Metropolitan Atlanta Congenital Defects Program, the association of seven relatively common and easily ascertainable groups of midline defects was studied. These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients). Known syndromes were excluded from the analysis. Of 1743 infants with at least one midline defect, 86 (4.9%) had at least a second midline defect, and 9 (0.5%) had two additional midline defects. Pairwise analysis of the seven defects shows that, although most midline defects tend to be statistically associated with other midline defects, specific combinations of midline defects are seen. For example, neural tube defects are more strongly associated with cleft lip with or without cleft palate than with cleft palate alone; imperforate anus is more strongly associated with spina bifida than with anencephaly or encephalocele. Moreover, some combinations of defects are not observed (eg, neural tube defect and conotruncal heart defect, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula). These data point to the need for further refinement in the study of the association of midline defects in terms of embryologic and pathogenetic mechanisms because most midline defects tend to occur as an isolated defect, some midline defects occur with nonmidline defects (such as limb defects), and specific associations among midline defects are observed.

scholarly journals A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly

2018 ◽  
Vol 06 (01) ◽  
pp. e15-e17
Author(s):  
Martin Poryo ◽  
Paul Hoffmann ◽  
Hans-Joachim Schäfers ◽  
Clemens-Magnus Meier ◽  
Katrin Altmeyer ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Aortic Aneurysm ◽  
Respiratory Function ◽  
Surgical Correction ◽  
Autologous Graft ◽  
Midline Defect ◽  
Sternal Cleft ◽  
Cardiovascular Anomaly

AbstractWe present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible.

scholarly journals Large parietal midline defect with unusual ridge-like structure at the rim and persistent falcine sinus

2013 ◽  
Vol 29 (7) ◽  
pp. 1069-1072 ◽  
Author(s):  
Chin-An Yang ◽  
Steven Shinn-Forng Peng ◽  
Wu-Shiun Hsieh ◽  
Po-Nien Tsao ◽  
Chien-Yi Chen ◽  
...  
Keyword(s):  
Midline Defect ◽  
Falcine Sinus

scholarly journals Perineal Groove: A Rare Congenital Midline Defect of Perineum

2015 ◽  
Vol 06 (01) ◽  
pp. e30-e32 ◽  
Author(s):  
Massroor Pourcyrous ◽  
Mimily Harsono
Keyword(s):  
Midline Defect

scholarly journals Congenital Midline Defect in Pituitary Dwarfs

1994 ◽  
Vol 8 (3) ◽  
pp. 22
Author(s):  
J Gordon Millichap
Keyword(s):  
Midline Defect

scholarly journals A case of midline defect of posterior arch of atlas in a cadaver

2016 ◽  
Vol 05 (02) ◽  
pp. 103-106
Author(s):  
Leena AB
Keyword(s):  
Undergraduate Students ◽  
Posterior Arch ◽  
Minor Trauma ◽  
Government Medical College ◽  
Associated Anomalies ◽  
Midline Defect ◽  
Medical College ◽  
Neurologic Deficits ◽  
Midline Defects ◽  
A Minor

AbstractDuring a routine osteology class for undergraduate students in Government Medical College, Kozhikode, Kerala, a median defect of posterior arch was found in the atlas of a cadaver. It was not a fracture as the edges were regular, round and smooth.There was no associated anomalies. These midline defects of posterior arch of atlas are sub divided both morphologically (types A-E) and clinically (sub groups 1-5) depending on the extent of absence of posterior arch and presence or absence of the posterior tubercle.The author presents a rare anomaly of a posterior arch partial aplasia which could be congenital. Since major neurologic deficits can be produced by a minor trauma, it is crucial to recognize this anomaly.

Congenital hypothalamic hamartoma associated with severe midline defect: A developmental field defect. Report of a case

1986 ◽  
Vol 25 (S2) ◽  
pp. 45-52 ◽  
Author(s):  
Raoul C. M. Hennekam ◽  
Frits A. Beemer ◽  
Franka Van Merrienboer ◽  
B. A. Van Ketel ◽  
Peter P. G. Kramer ◽  
...  
Keyword(s):  
Hypothalamic Hamartoma ◽  
Midline Defect ◽  
Field Defect

Biological Significance of Anti-GH Antibodies in Children Treated with rhGH

2019 ◽  
Vol 91 (1) ◽  
pp. 17-24 ◽  
Author(s):  
Gerhard Binder ◽  
Laura Heidenreich ◽  
Dirk Schnabel ◽  
Desirée Dunstheimer ◽  
Rudolf Oeverink ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Recombinant Human Growth Hormone ◽  
Biological Significance ◽  
Positive Test ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Test Results ◽  
Midline Defect ◽  
Group A ◽  
Group B

Background: The occurrence of antidrug antibodies is common in children treated with recombinant human growth hormone (rhGH). However, their clinical significance is unclear. Objective: This study aimed to examine the clinical significance of anti-GH antibodies by analyzing the phenotype of patients who tested positive in relation to the quantity of anti-GH antibodies. Method: In this laboratory-based retrospective study encompassing a time span of 6 years, all positive samples were identified, and senders were contacted. Anti-GH antibodies were measured using a radioprecipitation assay; positive samples underwent a confirmatory assay. Results: Out of a total of 104 samples from 66 patients, positive test results were found in 28 samples from 13 patients. Clinical data were available from all but one. The group with positive test results comprised 6 patients with a normal response to GH provocative tests (group A) and 6 with an insufficient response or with isolated GH deficiency (IGHD) type 1A (group B). Diagnoses in group A were neurosecretory dysfunction, bioinactive GH syndrome and constitutional delay of growth and puberty. Diagnoses in group B were IGHD type 1A, septo-optic dysplasia, and cerebral midline defect with multiple pituitary hormone deficiency. Insufficient growth response to rhGH was absent except in one sibling pair with IGHD type 1A and a patient with cerebral midline defect. These patients had the highest concentrations of anti-GH antibodies. Conclusions: The biological significance of anti-GH antibodies seems to be limited to patients with high concentrations of anti-GH antibodies. For all other patients, we recommend a careful “wait and see” strategy and monitoring antibody titers.

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