scholarly journals Case report on laurence moon biedyl syndrome

2017 ◽  
Vol 6 (4) ◽  
pp. 1001 ◽  
Author(s):  
Hemalatha P. ◽  
Chaitanya Deepthi R. ◽  
Udayalakshmi K. ◽  
Nirmala G. ◽  
Lakshmi P.
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Renal Dysfunction ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Laurence moon Biedyl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, Polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 36 year old male patient exhibiting characteristic features of Laurence moon Biedyl syndrome and then the literature is reviewed.

scholarly journals Bardet Biedl Syndrome- A Case Report

1970 ◽  
Vol 20 (1) ◽  
pp. 56-59
Author(s):  
M Azizul Haque ◽  
LS Sharmin ◽  
Q Tarikul Islam ◽  
ARM Saifuddin Ekram
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Bardet Biedl Syndrome ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 16 year old male patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed.   doi: 10.3329/taj.v20i1.3092 TAJ 2007; 20(1):56-59

scholarly journals Bardet Biedl Syndrome

2014 ◽  
Vol 3 (1) ◽  
pp. 56-59
Author(s):  
Abdul Bari ◽  
Aminul Islam ◽  
Mahmud Javed Hasan ◽  
Shanjida Shamsi ◽  
Sultan Ahmed
Keyword(s):  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Community Based ◽  
College Hospital ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include obesity, polydactyly, male hypogonadism, mental retardation, retinal dystrophy, adrenal dysfunction. We have presented a 14 year old male patient exhibiting characteristic features of Bardet Biedl syndrome (BBS), admitted into Community Based Medical College Hospital. CBMJ 2014 January: Vol. 03 No. 01 P: 56-59

scholarly journals Laurence Moon Bardet Biedle Syndrome

2018 ◽  
Vol 30 (1) ◽  
pp. 41-43
Author(s):  
Md Nazrul Islam ◽  
Shamima Akhter ◽  
SM Kamal ◽  
Sabikun Nahar Chowdhury
Keyword(s):  
Retinitis Pigmentosa ◽  
Clinical Features ◽  
Male Patient ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Learning Difficulties ◽  
Multiple Systems ◽  
Truncal Obesity ◽  
Characteristic Features

Laurence Moon Bardet Biedle syndrome is a rare, autosomal recessive genetic disorder involving multiple systems and has wide spectrum of clinical features. Characteristic features of this disorder are retinitis pigmentosa, polydactyly, truncal obesity and learning difficulties. It may also be associated with hypogonadism in male and complex genitourinary abnormalities in female. We present a case of 33 years male patient having obesity, decreased vision, polydactyly, hypogonadism and retinitis pigmentosa. These clinical features are consistent with Laurence Moon Bardet Biedle syndrome.Medicine Today 2018 Vol.30(1): 41-43

scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

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 Senior Loken syndrome with Atypical Retinitis Pigmentosa: a rare manifestation of rare disease

2018 ◽  
Vol 5 (2) ◽  
pp. 651
Author(s):  
Madhura S. ◽  
Sowrabha . ◽  
Manjunath . ◽  
Savitha M. R.
Keyword(s):  
Renal Transplantation ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Rare Condition ◽  
End Stage Kidney Disease ◽  
Rare Manifestation ◽  
Autosomal Recessive Condition ◽  
Urinary Concentrating Ability ◽  
End Stage

Senior Loken syndrome is an autosomal recessive condition characterized by combination of nephronophthisis and retinal degeneration. The earliest presenting features include polyuria and polydipsia secondary to impaired urinary concentrating ability. Nephronophthisis progresses to end stage kidney disease (ESKD) during second decade. The treatment of choice for ESKD due to nephronophthisis is renal transplantation. Retinal lesions are variable ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other features associated with this condition including skeletal, dermatological and cerebellar anomalies. Till date very few cases have been reported due to lack of awareness of this rare condition. Here, we report a case of Senior loken syndrome with atypical retinitis pigmentosa in a 14-year-old boy.

scholarly journals Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome – A Case Report

2021 ◽  
Vol 11 (8) ◽  
Author(s):  
Amit Kumar Yadav ◽  
Farokh Wadia ◽  
Sangeet Gawhale ◽  
Sameer Panchal ◽  
Pritam Talukder ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Family History ◽  
Autosomal Recessive ◽  
Iliac Crest ◽  
Plain Radiograph ◽  
Genu Varum ◽  
Radiological Sign ◽  
Recessive Type ◽  
Spondyloepimetaphyseal Dysplasia

Introduction: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC. Case Report: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years’ duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome. Conclusion: The radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC. Keywords: Genu varum, Dyggve-Melchior-Clausen syndrome, spondyloepimetaphyseal dysplasia.

scholarly journals Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

Clinical and Laboratory Findings of Two Newborns with Wiedemann-Rautenstrauch Syndrome: Additional Features, Evaluation of Bone Turnover and Review of the Literature

2008 ◽  
Vol 21 (6) ◽  
pp. 591-596
Author(s):  
Ener Cagri Dinleyici ◽  
Neslihan Tekin ◽  
Meltem Dinleyici ◽  
M. Arif Aksit
Keyword(s):  
Autosomal Recessive ◽  
Intrauterine Growth Retardation ◽  
Scalp Hair ◽  
Subcutaneous Fat ◽  
Facial Dysmorphism ◽  
Laboratory Findings ◽  
Intrauterine Growth ◽  
Thin Skin ◽  
Autosomal Recessive Condition ◽  
Characteristic Features

Abstract Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive condition which represents a complex of symptoms and laboratory findings with unknown cause and pathogenesis. Approximately 30 patients with WRS have been reported. We report here two newborns with WRS from Turkey with clinical and laboratory findings including bone marker evaluation. Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent scalp veins and facial dysmorphism. They also have severe osteopenia and elevated urinary deoxypyridinoline levels which have not been previously described in patients with WRS. Impaired lipid and hormone profiles including elevated prolactin and triglyceride level have been reported in patients with WRS. Our first patient also has excessive joint contractures, persisting thrombocytosis and rectal prolapse. We evaluated bone mineral findings in our two patients with WRS and recommend caution when handling children with WRS.

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