Presentation
The radiological features of the skeleton in the two syndromes are presented. [onlinelibrary.wiley.com]
We present three cases of SLS from different families with the typical clinical triad. The magnetic resonance imaging (MRI) and 1H-MRS findings are discussed. CASES Case 1 – A 16-year-old girl presented with ichthyosis and spastic diplegia. [scielo.br]
Aims: To present Swedish DS specific growth charts. Methods: The growth charts are based on a combination of longitudinal and cross sectional data from 4832 examinations of 354 individuals with DS (203 males, 151 females), born in 1970–97. [ncbi.nlm.nih.gov]
Patient An 11-month-old male infant presented with a malformation syndrome with oral (Gothic palate, lobulated tongue with lateral frenulae and hamartomas) facial (a small nose with flattened nasal root and hypoplastic nostrils, small facial skeleton, [analesdepediatria.org]
Entire Body System
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Epilepsy
She had no past history of epilepsy. On examination, her height was 140 cm ( 5th percentile), and her weight was 39.3 kg ( 5th percentile). [scielo.br]
Skin
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Pruritus
Pruritus is a prominent feature that is not found in other types of ichthyotic skin disorders, and has been recognized as an important symptom that strongly suggests the diagnosis of SLS8. [scielo.br]
Face, Head & Neck
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High Forehead
forehead, low-implanted ears, stenosis of the choana) and digital malformations (polyand clinodactyl hands and feet) typical of OFDS. [analesdepediatria.org]
Neurologic
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Cognitive Developmental Delay
The parents noted a cognitive developmental delay and difficult walking. He also had dysarthria. On examination, his height was 143 cm (percentile 50) and his weight was 36 kg (percentile 50). [scielo.br]
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Clonus
Neurological examination demonstrated increased deep tendon reflexes and clonus. Nerve conduction studies were normal. [scielo.br]
Etiology
Etiological and pathogenetic aspects of children born 1959-1970. Neuropaediatric 1977;(8):293-304. Lantigua A, Mora F, Arechaederra M, Rojas I, Morales E, Rodriguez H, Viñas C, Noa CE, Barrios B. [medigraphic.com]
Epidemiology
The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002;(8):117-34. Baird PA, Sadovnick AD. Maternal age-specific rates for Down syndrome: Changes over time. [medigraphic.com]