Longitudinal Follow-up of Malignant Osteopetrosis by Skeletal Radiographs and Restriction Fragment Length Polymorphism Analysis After Bone Marrow Transplantation

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 986-989
Author(s):  
ROBERT E. SCHROEDER ◽  
F. LEONARD JOHNSON ◽  
MICHAEL J. SILBERSTEIN ◽  
WILMA L. NEUMAN ◽  
JEANNE M. HOAG ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Fragment Length Polymorphism ◽  
Autosomal Recessive Disorder ◽  
Polymorphism Analysis ◽  
Newborn Period ◽  
Normal Bone ◽  
Malignant Osteopetrosis ◽  
Osteoclast Function ◽  
Infantile Malignant Osteopetrosis

Infantile malignant osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first months of life with manifestations related to an underlying defect in osteoclast function. Abnormal osteoclast activity paired with normal bone formation by osteoblasts leads to development of densely sclerotic fragile bones. Encroachment on the marrow cavities by hyperostotic bone results in profound anemia and thrombocytopenia, with extramedullary ullary hematopoiesis and hypersplenism. Deficits in immune function can lead to presentation with overwhelming sepsis in the newborn period. Narrowing of the optic and auditory foramina can lead to progressive blindness and hearing loss. Until recently, the prognosis for this disorder had been uniformly dismal with death usually occurring within a few months.l-3

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis

Bone ◽  
2013 ◽  
Vol 57 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Ilana Moscatelli ◽  
Christian Schneider Thudium ◽  
Carmen Flores ◽  
Ansgar Schulz ◽  
Maria Askmyr ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Peripheral Blood ◽  
Peripheral Blood Cd34 ◽  
Cd34 Cells ◽  
Malignant Osteopetrosis ◽  
Osteoclast Function ◽  
Infantile Malignant Osteopetrosis

Gene transfer to CD34+ blood cells restores osteoclast function in infantile malignant osteopetrosis

Bone ◽  
2012 ◽  
Vol 50 ◽  
pp. S37 ◽  
Author(s):  
C.S. Thudium⁎ ◽  
I. Moscatelli ◽  
M. Askmyr ◽  
A. Schulz ◽  
O. Porras ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Blood Cells ◽  
Malignant Osteopetrosis ◽  
Osteoclast Function ◽  
Infantile Malignant Osteopetrosis

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Berna Seker Yilmaz ◽  
Deniz Kor ◽  
Neslihan Onenli Mungan ◽  
Sevcan Erdem ◽  
Serdar Ceylaner
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Carnitine Deficiency ◽  
Carnitine Transporter ◽  
Hypoglycemic Encephalopathy ◽  
Primary Carnitine Deficiency ◽  
Turkish Case ◽  
Systemic Carnitine Deficiency

AbstractSystemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel

scholarly journals A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 272
Author(s):  
Gina Nam ◽  
Angela Cho ◽  
Mi-hye Park
Keyword(s):  
Pregnant Woman ◽  
Prenatal Diagnosis ◽  
Preterm Labor ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Bartter Syndrome ◽  
Case Presentation ◽  
Good Clinical Condition

Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Case Presentation: We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. Conclusions: For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

2013 ◽  
Vol 81 (9) ◽  
pp. 969-970 ◽  
Author(s):  
Sirisha Rani Siddaiahgari ◽  
Darshak Makadia ◽  
Nikit Shah ◽  
Radha Rama Devi ◽  
Lokesh Lingappa
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

scholarly journals Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report

2020 ◽  
Vol 18 (4) ◽  
pp. 503-506
Author(s):  
Masoud Gharib ◽  
◽  
Roshanak Vameghi ◽  
Mohsen Fallahi ◽  
◽  
...  
Keyword(s):  
Developmental Delay ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Secondary Complications ◽  
Neurodevelopmental Delay ◽  
Cognitive Interventions ◽  
Iranian Children

Beaulieu-Boycott-Innes syndrome (BBIS), an autosomal recessive disorder, is characterized by dysmorphic facial features and developmental delay. In this case study, we used the age and stages questionnaire 2 (ASQ-2) to assess the developmental status of an Iranian 20-month-old girl displaying a complex BBIS phenotype. Rehabilitation interventions were designed and performed focusing on neurodevelopmental delay. Because she had a severe developmental delay and her scores in all five domains of ASQ-2 were below the cut-off points available for Iranian children, the effectiveness of rehabilitation interventions was slower than expected. It seems that early rehabilitation and close follow-up should be considered for these children. We can assume that early and properly sensory-motor and cognitive interventions in these children may lead to growth development and prevent secondary complications.

scholarly journals Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyu Liu ◽  
Muhammad Ajmal ◽  
Zaineb Akram ◽  
Tariq Ghafoor ◽  
Muhammad Farhan ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Missense Variant ◽  
Whole Exome ◽  
Novel Variants ◽  
Malignant Osteopetrosis ◽  
The Stability ◽  
Pakistani Families ◽  
Infantile Malignant Osteopetrosis

AbstractOsteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis is necessary for prognosis and for prescribing treatment paradigms in osteopetrosis. Here we report on thirteen individuals diagnosed with infantile malignant osteopetrosis coming from ten unrelated Pakistani families; nine of whom are consanguineous. We performed whole exome sequencing and Sanger sequencing in all families and identified homozygous variants in genes previously reported for autosomal recessive inheritance of osteopetrosis. All the identified variants are expected to affect the stability or length of gene products except one nonsynonymous missense variant. TCIRG1 was found as a candidate causal gene in majority of the families. We report six novel variants; four in TCIRG1 and one each in CLCN7 and OSTM1. Our combined findings will be helpful in molecular diagnosis and genetic counselling of patients with osteopetrosis particularly in populations with high consanguinity.

scholarly journals Short-term results of total shoulder arthroplasty for ochronotic arthritis

2019 ◽  
Vol 2019 (7) ◽  
Author(s):  
Desiree Dorleijn ◽  
Arthur van Noort ◽  
Guus Janus
Keyword(s):  
Shoulder Arthroplasty ◽  
Autosomal Recessive ◽  
Total Shoulder Arthroplasty ◽  
Autosomal Recessive Disorder ◽  
Short Term ◽  
Joint Replacements ◽  
Large Joint ◽  
Stemless Shoulder Arthroplasty ◽  
Black Discoloration

Abstract Alkaptonuria is a rare inherited autosomal recessive disorder resulting in large joint osteoarthritis with black discoloration of the cartilage. The glenohumeral is the third most affected joint. Two cases of ochronotic shoulder arthropathy with three shoulder joint replacements are presented. Stemless shoulder arthroplasty was implanted with moderate to good results up to 2 years follow-up regarding pain and range of motion.

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