Palatoplasty in a patient with Seckel syndrome

Garg, Ramneesh; Uppal, S. K.; Mittal, Rita; Grewal, Anju; Sood, Dinesh; Shah, Sheerin

doi:10.4103/2231-0746.95324

Cited by 2 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The synonyms of this syndrome include Sickle dwarfism, Bird-headed dwarfism, Nanocephalic dwarfism, and Microcephalic primordial dwarfism. 3 . The etiopathogenesis of this syndrome is still topic of research and linkage studies may hopefully allow the localization of the gene, which will enable the cloning and identify the underlying pathogenesis, which is responsible for the features of the Sickle syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…2 There are 25% chances of recurrence in subsequent siblings. 3 The male to female sex ratio is 9:11 and both sexes are equally severely affected. 4 Characteristic features of this syndrome include severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Management of Seckle Syndrome: A Pediatric Case Report

Goswami

Aggarwal

2017

JDHODT

View full text Add to dashboard Cite

Sickle syndrome is a rare autosomal recessive disorder with incidence of 1:10,000 live born cases. It is characterized by proportionate dwarfism, delayed mental development, microcephaly and typical bird like facial appearance hence also called as Bird headed dwarfism. Characteristic skeletal anomalies include premature closure of the cranial sutures and fifth finger clinodactyly. Mental deficiency is present in half of the cases with levels of IQ below 50. Head circumference is the most retarded parameter. The cerebellum is small with a simple primitive convolutional pattern. Orodental findings include retrognathia, hypodontia, enamel hypoplasia, crowding, cleft palate and Class II malocclusion. This case report highlights the various clinical features and management in a pediatric patient with Sickle syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Management of Seckle Syndrome: A Pediatric Case Report

Goswami

Aggarwal

2017

JDHODT

View full text Add to dashboard Cite

show abstract

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

et al. 2021

View full text Add to dashboard Cite

Purpose To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case. Methods We conducted a search on the MEDLINE, PubMed, Google Scholar, and Cochrane databases using the keywords “Seckel + syndrome.” We identified 127 related articles reporting 252 cases of SS apart from our case. Moreover, we searched for SS cases with CNS vasculopathies from the same databases. We identified 7 related articles reporting 7 cases of CNS vasculopathies in SS patients. Results The overall rate of CNS vasculopathy in SS patients is 3.16% (n = 8/253), where moyamoya disease (MMD) accounted for 1.97%. The mean age is 13.5 years (6–19 years), with equal gender distribution (M:F, 1:1). The most common presenting symptoms were headache and seizure followed by weakness or coma. Aneurysms were mostly located in the basilar artery, middle cerebral artery, and internal carotid artery, respectively. Regardless of the management approach, 50% of the cases sustained mild-moderate neurological deficit, 37.5% have died, and 12.5% sustained no deficit. Conclusion A high index of suspicion should be maintained in (SS) patients, and MMD should be part of the differential diagnosis. Prevalence of CNS vasculopathy in SS is 3.16% with a much higher prevalence of MMD compared to the general population. Screening for cerebral vasculopathy in SS is justifiable especially in centers that have good resources. Further data are still needed to identify the most appropriate management plan in these cases.

show abstract

Palatoplasty in a patient with Seckel syndrome

Cited by 2 publications

References 11 publications

Management of Seckle Syndrome: A Pediatric Case Report

Management of Seckle Syndrome: A Pediatric Case Report

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

Contact Info

Product

Resources

About