Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: A syndrome?

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

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Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy

Revista Española de Medicina Nuclear e Imagen Molecular (English Edition) ◽

10.1016/j.remnie.2019.04.001 ◽

2019 ◽

Vol 38 (4) ◽

pp. 243-244

Author(s):

E.R. Marqués Aparicio ◽

J. Dolado Ardit ◽

A. Crespo-Jara ◽

A. Martínez Caballero ◽

M.A. Antón Leal ◽

...

Keyword(s):

Bone Scintigraphy ◽

Bone Dysplasia ◽

Sclerosing Bone Dysplasia

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Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Bone ◽

10.1016/j.bone.2014.08.014 ◽

2014 ◽

Vol 68 ◽

pp. 142-145 ◽

Cited By ~ 10

Author(s):

Marie-Hélène Gannagé-Yared ◽

Periklis Makrythanasis ◽

Eliane Chouery ◽

Cristina Sobacchi ◽

Cybel Mehawej ◽

...

Keyword(s):

Exome Sequencing ◽

Bone Dysplasia ◽

Sclerosing Bone Dysplasia

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Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder

Plastic & Reconstructive Surgery ◽

10.1097/00006534-198503000-00081 ◽

1985 ◽

Vol 75 (3) ◽

pp. 453

Author(s):

&NA;

Keyword(s):

Mental Retardation ◽

Seizure Disorder

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Melorheostosis: a Rare Sclerosing Bone Dysplasia

Current Osteoporosis Reports ◽

10.1007/s11914-017-0375-y ◽

2017 ◽

Vol 15 (4) ◽

pp. 335-342 ◽

Cited By ~ 23

Author(s):

Anupam Kotwal ◽

Bart L. Clarke

Keyword(s):

Bone Dysplasia ◽

Sclerosing Bone Dysplasia

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A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31837 ◽

2007 ◽

Vol 143A (13) ◽

pp. 1462-1471 ◽

Cited By ~ 74

Author(s):

Nader Ghebranious ◽

Philip F. Giampietro ◽

Frederic P. Wesbrook ◽

Shereif H. Rezkalla

Keyword(s):

Mental Retardation ◽

Aortic Valve ◽

Candidate Genes ◽

Seizure Disorder ◽

Mild Mental Retardation ◽

Valve Development

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A Case Report of 2.5 Years Old, Male Child with Megalencephaly with Mental Retardation, Seizure Disorder, and GERD

International Journal of Health Sciences and Pharmacy ◽

10.47992/ijhsp.2581.6411.0022 ◽

2018 ◽

pp. 8-12

Author(s):

Edwin Dias

Keyword(s):

Mental Retardation ◽

Case Report ◽

Seizure Disorder ◽

Male Child ◽

Mri Brain ◽

Scalp Eeg ◽

Normal Limits ◽

Video Eeg

A child of 2.5 years old had an intractable seizure, clinically had megalencephaly and mental retardation. On evaluation, video EEG showed fronto-central seizures and dysfunction R 1, scalp EEG showed bilateral paroxysmal bursts, MRI brain showed prominent vascular spaces in the hemisphere, GE reflux scan showed GERD. Other investigations were within normal limits. The child was treated with antiepileptics and antireflux measures and also rehabilitation.

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