Discovery of a Probable Gene Mutation Causing Mental Retardation, Microsomia, and Signs of Skeletal Dysplasia in an Arab Family with a Previously Undelineated Autosomal Recessive Disorder

2011 ◽  
pp. BMP62
Author(s):  
Mazen Naim Osman
Keyword(s):  
Mental Retardation ◽  
Gene Mutation ◽  
Skeletal Dysplasia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Probable Gene

scholarly journals MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

2006 ◽  
Vol 14 (5) ◽  
pp. 543-548 ◽  
Author(s):  
Daniel J Hampshire ◽  
Mohammed Ayub ◽  
Kelly Springell ◽  
Emma Roberts ◽  
Hussain Jafri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Disorder ◽  
Truncal Obesity

scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

A case report of seckel syndrome

2018 ◽  
Vol 10 (2) ◽  
pp. 39-42
Author(s):  
Chaitanya R Uppin
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Birth Weight ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Narrow Face ◽  
Seckel Syndrome ◽  
Small Head ◽  
Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

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

scholarly journals Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect

2010 ◽  
Vol 54 (8) ◽  
pp. 732-737 ◽  
Author(s):  
Solange Caires Neves ◽  
Paola Rossi Mezalira ◽  
Vera M. A. Dias ◽  
Antonio J. Chagas ◽  
Maria Viana ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neonatal Screening ◽  
Laboratory Tests ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
Autosomal Recessive Disorder ◽  
Thyroid Peroxidase ◽  
Base Pairs ◽  
Iodide Organification Defect ◽  
Organification Defect

The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO promoter were sequenced. Molecular analysis of patient's DNA identified the heterozygous duplication GGCC (c.1186_1187insGGCC) in exon 8 of the TPO gene. No additional mutation was detected either in the TPO gene, TPO promoter, DUOX2 or DUOXA2 genes. We have described a patient with a clear TIOD causing severe goitrous CH due to a monoallelic TPO mutation. A plausible explanation for the association between an autosomal recessive disorder with a single TPO-mutated allele is the presence of monoallelic TPO expression.

scholarly journals Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Divya Gaddam ◽  
Mukesh Singh Thakur ◽  
Niranjani Krothapalli ◽  
Saujanya Kaniti
Keyword(s):  
Adipose Tissue ◽  
Mental Retardation ◽  
Dental Caries ◽  
General Anesthesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Common Finding ◽  
Dental Management ◽  
Cockayne's Syndrome ◽  
Dental Rehabilitation

Cockayne’s syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. Dental rehabilitation of a 14-year-old male with Cockayne’s syndrome is presented.

scholarly journals Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

1970 ◽  
Vol 13 (1) ◽  
pp. 97-99
Author(s):  
Monzoor Quader ◽  
Mohammad Syedul Islam ◽  
Quazi Mamatz Uddin Ahmed ◽  
Md Abul Kalam Azad ◽  
Md Abdur Rahim
Keyword(s):  
Diabetes Mellitus ◽  
Renal Cell Carcinoma ◽  
Mental Retardation ◽  
Central Obesity ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Learning Difficulty ◽  
Bardet Biedl Syndrome ◽  
Increased Risk

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10083 JOM 2012; 13(1): 97-99

scholarly journals Seckel Syndrome in a 9 Year Old Child

2017 ◽  
pp. 1-4
Author(s):  
Edwin Dias ◽  
Sonali P. ◽  
Deeksha A. ◽  
Zulqarnain M.
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mental Retardation ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Development ◽  
Seckel Syndrome ◽  
Craniofacial Dysmorphism ◽  
Skeletal Defects

Seckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usually such patients have poor psychomotor development.

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