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 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.

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 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.

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.

A Case of Cleft Lip and Palate Associated with Seckel Syndrome

2004 ◽  
Vol 41 (2) ◽  
pp. 202-205 ◽  
Author(s):  
Jyotsna Murthy ◽  
Krishna G. Seshadri ◽  
Padmasani Venkat Ramanan ◽  
Arvind Rajamani ◽  
Altaf Hussain
Keyword(s):  
Autosomal Recessive ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Autosomal Recessive Disorder ◽  
Technical Problems ◽  
Seckel Syndrome ◽  
Intrauterine Growth ◽  
Unusual Association ◽  
Secondary Palate ◽  
Cleft Lip Repair

Objective We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

scholarly journals Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Brenda Dawley
Keyword(s):  
Case Report ◽  
Prenatal Care ◽  
Medical History ◽  
Multidisciplinary Team ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Severe Preeclampsia ◽  
Team Approach ◽  
Multidisciplinary Team Approach ◽  
Multiple Episodes

Background. Alpha II antiplasmin is a protein involved in the inhibition of fibrinolysis. A deficiency in this protein leads to increased hemorrhage. It is inherited in an autosomal recessive fashion.Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. Her medical history was significant for a known deficiency in alpha II antiplasmin. Her first and second pregnancies were complicated by nonobstetrical hemorrhage requiring transfusions and severe preeclampsia requiring preterm deliveries.Conclusion. Alpha II antiplasmin deficiency resulted in multiple episodes of nonobstetrical hemorrhages requiring transfusion and ultimately preterm deliveries due to severe preeclampsia. Both infants and mother had a good outcome. The presence of this disorder may require a multidisciplinary team approach involving obstetricians, pediatricians, and hematologists.Precis. Alpha II antiplasmin deficiency is a rare autosomal recessive disorder leading to increased fibrinolysis and hemorrhage. We present a case report of a pregnancy complicated by this disorder.

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 Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

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.

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