scholarly journals Postaxial polydactyly-dental and vertebral anomalies syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Postaxial Polydactyly ◽  
Vertebral Anomalies

Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A

Genomics ◽  
2021 ◽  
Author(s):  
Muhammad Umair ◽  
Oliva Palander ◽  
Muhammad Bilal ◽  
Bader Almuzzaini ◽  
Qamre Alam ◽  
...  
Keyword(s):  
Type A ◽  
Candidate Locus ◽  
Postaxial Polydactyly

Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 450-453
Author(s):  
William H. Constad ◽  
Rudolph S. Wagner ◽  
Anthony R. Caputo
Keyword(s):  
Corpus Callosum ◽  
Strong Evidence ◽  
Infantile Spasms ◽  
Unaffected Sibling ◽  
Early Age ◽  
Mutational Event ◽  
Dizygotic Twin ◽  
First Case ◽  
Vertebral Anomalies ◽  
Aicardi Syndrome

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.

The association of lumbosacral transitional vertebral anomalies with acetabular dysplasia in adult patients with hip-spine syndrome

2021 ◽  
Vol 103-B (8) ◽  
pp. 1351-1357
Author(s):  
Joshua Sun ◽  
Avneesh Chhabra ◽  
Uma Thakur ◽  
Louis Vazquez ◽  
Yin Xi ◽  
...  
Keyword(s):  
Acetabular Dysplasia ◽  
Intraclass Correlation ◽  
Final Diagnosis ◽  
Hip Pain ◽  
Pars Interarticularis ◽  
Vertebral Anomalies ◽  
Lumbosacral Transitional Vertebra ◽  
Standard Radiographs ◽  
Time Of Presentation ◽  
The Relationship

Aims Some patients presenting with hip pain and instability and underlying acetabular dysplasia (AD) do not experience resolution of symptoms after surgical management. Hip-spine syndrome is a possible underlying cause. We hypothesized that there is a higher frequency of radiological spine anomalies in patients with AD. We also assessed the relationship between radiological severity of AD and frequency of spine anomalies. Methods In a retrospective analysis of registry data, 122 hips in 122 patients who presented with hip pain and and a final diagnosis of AD were studied. Two observers analyzed hip and spine variables using standard radiographs to assess AD. The frequency of lumbosacral transitional vertebra (LSTV), along with associated Castellvi grade, pars interarticularis defect, and spinal morphological measurements were recorded and correlated with radiological severity of AD. Results Out of 122 patients, 110 (90.2%) were female and 12 (9.8%) were male. We analyzed the radiographs of 122 hips (59 (48.4%) symptomatic left hips, and 63 (51.6%) symptomatic right hips). Average age at time of presentation was 34.2 years (SD 11.2). Frequency of LSTV was high (39% to 43%), compared to historic records from the general population, with Castellvi type 3b being the most common (60% to 63%). Patients with AD have increased L4 and L5 interpedicular distance compared to published values. Frequency of pars interarticularis defect was 4%. Intraclass correlation coefficient for hip and spine variables assessed ranged from good (0.60 to 0.75) to excellent (0.75 to 1.00). Severity of AD did not demonstrate significant correlation with frequency of radiological spine anomalies. Conclusion Patients with AD have increased frequency of spinal anomalies seen on standard hip radiographs. However, there exists no correlation between radiological severity of AD and frequency of spine anomalies. In managing AD patients, clinicians should also assess spinal anomalies that are easily found on standard hip radiographs. Cite this article: Bone Joint J 2021;103-B(8):1351–1357.

scholarly journals Atypical presentation of Goldenher syndrome- a rare scenario

2014 ◽  
Vol 9 (4) ◽  
pp. 51-54
Author(s):  
C Lath ◽  
S Sen ◽  
M Mondal ◽  
D Maiti ◽  
R Singh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Chromosomal Analysis ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Medical Sciences ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

Amalgamation of Various Vertebral Anomalies: A Rare Case Report

2016 ◽  
Vol 05 (06) ◽  
Author(s):  
Dildip Khanal ◽  
Krishna Prasad Sapkota ◽  
Rupa Shiwakoti
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Rare Case Report ◽  
Vertebral Anomalies

Scoliosis and Other Congenital Vertebral Anomalies

2020 ◽  
pp. 2623-2633
Author(s):  
Mari L. Groves ◽  
Andrew C. Vivas ◽  
Amer F. Samdani
Keyword(s):  
Vertebral Anomalies
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