scholarly journals A case of Ritscher-Schinzel syndrome or 3C syndrome

2017 ◽  
Vol 4 (3) ◽  
pp. 1122
Author(s):  
G. Deepika ◽  
Chaitali R Raghoji ◽  
R. C. Ashwini ◽  
G. Guruprasad
Keyword(s):  
Cardiac Disease ◽  
Autosomal Recessive ◽  
Cerebellar Hypoplasia ◽  
Cardiac Defects ◽  
Cardiac Syndrome ◽  
Chromosome 8Q24 ◽  
Autosomal Recessive Pattern ◽  
Disease Present

Ritscher Schinzel syndrome or cranio-cerebello-cardiac syndrome is characterized by cardiac defects, cerebellar hypoplasia and cranial defects. It is usually inherited as autosomal recessive pattern involving chromosome 8q24. the overall prognosis vary widely and it correlates with the cardiac disease present. 

Primary Infundibular Stenosis and Pedigree Analysis in Three Golden Retriever Littermates

2012 ◽  
Vol 48 (1) ◽  
pp. 50-53 ◽  
Author(s):  
Jason Arndt ◽  
Petra Werner ◽  
Meg Sleeper
Keyword(s):  
Cardiac Disease ◽  
Autosomal Recessive ◽  
Pedigree Analysis ◽  
Systolic Murmur ◽  
Autosomal Recessive Mode ◽  
Golden Retriever ◽  
Congenital Cardiac Disease ◽  
Infundibular Stenosis ◽  
Mode Of Inheritance ◽  
Autosomal Recessive Pattern

Three eight-week-old golden retriever puppy littermates were evaluated because of left basilar systolic murmurs and were diagnosed with primary infundibular stenosis. Pedigree analysis in this line was also performed to identify a mode of inheritance. All dogs were asymptomatic at the time of diagnosis; two of the three had congenital lesions in addition to primary infundibular stenosis. Two additional affected dogs were identified in the line, and pedigree analysis suggested an autosomal recessive mode of inheritance. Another, unrelated golden retriever was also identified with isolated infundibular stenosis in the record database. Primary infundibular stenosis should be considered in the differential diagnoses for golden retriever dogs with a left basilar systolic murmur, and is often associated with complex congenital cardiac disease. Primary infundibular stenosis may worsen in severity with time, and in this line of dogs an autosomal recessive pattern of inheritance is likely.

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

2015 ◽  
Vol 134 (3) ◽  
pp. 305-314 ◽  
Author(s):  
Daniella Magen ◽  
Ayala Ofir ◽  
Liron Berger ◽  
Dorit Goldsher ◽  
Ayelet Eran ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cerebellar Hypoplasia ◽  
Loss Of Function

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

scholarly journals SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

2018 ◽  
Author(s):  
Lauren Swan ◽  
John Cardinal ◽  
David Coman
Keyword(s):  
Cognitive Impairment ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Clinical Phenotype ◽  
Cerebellar Hypoplasia ◽  
Childhood Onset ◽  
Spectrin Repeat ◽  
Disease Phenotypes ◽  
Related Disease ◽  
Autosomal Recessive Cerebellar Ataxia

The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8, which demonstrates variable age of onset with a median of 30 years of age. However pathogenic mutations in SYNE1 are also causative of arthrogryposis multiplex congenital, a severe congenital neuromuscular condition. Here in we report monozygous twins with childhood onset ataxia, cerebellar hypoplasia, dysarthria, and cognitive impairment sharing two novel heterozygous mutations in the SYNE1 gene. Our family may expand the clinical phenotype associated with SYNE1-related disease and offers possible genotype-phenotype correlations of a rare continuum of clinical disease phenotypes from neonatal to adult onset.

Autosomal recessive cerebellar hypoplasia

1993 ◽  
Vol 9 (3) ◽  
pp. 247 ◽  
Author(s):  
Christopher M. Harris ◽  
Anthony Kriss ◽  
Isabelle Russell-Eggitt
Keyword(s):  
Autosomal Recessive ◽  
Cerebellar Hypoplasia

scholarly journals Congenital Nonspherocytic Hemolytic Anemia, Associated with Glutathione Deficiency of the Erythrocytes

Blood ◽  
1966 ◽  
Vol 27 (2) ◽  
pp. 145-166 ◽  
Author(s):  
H. K. PRINS ◽  
M. OORT ◽  
J. A. LOOS ◽  
C. ZÜRCHER ◽  
T. BECKERS
Keyword(s):  
Hemolytic Anemia ◽  
Autosomal Recessive ◽  
Reduced Glutathione ◽  
Normal Range ◽  
Serological Method ◽  
No Formation ◽  
Glycolytic Activity ◽  
Glutathione Deficiency ◽  
Autosomal Recessive Pattern

Abstract 1. A new biochemical defect of erythrocytes is described: glutathione deficiency (reduced glutathione less than 10 per cent of the amount of reduced glutathione in normal erythrocytes). 2. The defect is associated with a clinical picture of congenital nonspherocytic hemolytic anemia which is fairly well compensated. 3. The results of a family study are consistent with an autosomal recessive pattern of inheritance. 4. Labeling with Na2Cr51O4 has a damaging effect on glutathione-deficient erythrocytes. The erythrocyte life span, as estimated by a serological method (Ashby), was markedly shortened (30 days instead of 100-120 days). 5. Red cell destruction could be increased by the administration of primaquine. 6. Secondary to the glutathione deficiency, low glyoxalase activity was observed. The glutathione-reducing capacity, glycolytic activity, and the ATP level of the abnormal red cells were found to be within the normal range. 7. On incubation of the glutathione-deficient erythrocytes in vitro with glycine-C14 and glutamine-C14, no formation of labeled glutathione could be demonstrated.

Hypergonadotrophic hypogonadism in an XX female subject due to 17,20 steroid desmolase deficiency

1983 ◽  
Vol 103 (3) ◽  
pp. 400-405 ◽  
Author(s):  
Fernando Larrea ◽  
Rubén Lisker ◽  
Rosario Bañuelos ◽  
José A. Bermúdez ◽  
Joaquín Herrera ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Elevated Serum ◽  
Serum Levels ◽  
Primary Amenorrhoea ◽  
Serum Lh ◽  
Before And After ◽  
Early Follicular Phase ◽  
Normal Women ◽  
Circulating Levels ◽  
Autosomal Recessive Pattern

Abstract. A 22 year old XX female patient with primary amenorrhoea and sexual infantilism was studied. Persistently elevated serum LH and FSH concentrations and exaggerated LRH pituitary responsiveness indicated deficient ovarian hormonal production. Serum levels of C21 and C19 steroids measured by specific radioimmunoassays before and after appropriate stimulations demonstrated an impairment of adrenal and ovarian steroid biosynthesis. Baseline levels of androstenedione (Δ4-A), testosterone (T), and oestradiol-17β (E2) were persistently below the normal range for healthy women at early follicular phase, whereas progesterone (P) and 17α-OH-progesterone (17-OH-P) serum levels were significantly higher than those observed for normal women. Adrenal and gonadal stimulation with ATCH and hCG, respectively, resulted in a considerable rise in serum P and 17-OH-P without any significant change in circulating levels of Δ4-A, T, and E2. These findings were consistent with the diagnosis of 17,20 steroid desmolase deficiency at both adrenal and ovarian levels. This is the first report of a 17,20 desmolase deficiency in an XX individual, and is in line with previous suggestions that familial occurrence of the disorder would fit an autosomal recessive pattern of inheritance.

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