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Schwartz-Jampel syndrome.

Chandra SR, Issac TG, Gayathri N, Shivaram S - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features.Diagnosis is made by awareness into the typical phenotypic characters.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

ABSTRACT
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

No MeSH data available.


Related in: MedlinePlus

(a) Fixed facial expression, bushy eyebrows, decreased palpebral fissure, low placed ears, pursed lips, micrognathia with myotonic spasm of the chin muscles, (b) difficulty in opening the jaw completely, (c) mild flexion at the elbow, broad base while standing
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Figure 1: (a) Fixed facial expression, bushy eyebrows, decreased palpebral fissure, low placed ears, pursed lips, micrognathia with myotonic spasm of the chin muscles, (b) difficulty in opening the jaw completely, (c) mild flexion at the elbow, broad base while standing

Mentions: Examination showed short statured boy (height-145 cm, arm span-148 cm, upper segment-70 cm, and lower segment-75 cm), his palpebral fissure was narrow at rest (6 mm gap between upper and lower eyelids) and when attempting to close and open it was becoming still narrower. Patient showed no fatigability. He had bushy eyelashes, flat forehead, receding chin, pursed mouth, high arched palate, and pinched upturned nose. He had a peculiar spasm visible in facial muscles, malocclusion, short neck with neck extensor contractures, mild kyphosis in the thoracolumbar region, bilateral flat foot, and hallux valgus [Figure 1a–c]. His gait showed ankle externally rotated causing a wide base pelvis which moved en bloc and left hip tilted down. His calf muscles were prominent, and there was transient percussion myotonia in the left thenar muscles. The tone, power, reflexes, and sensations were normal in all groups.


Schwartz-Jampel syndrome.

Chandra SR, Issac TG, Gayathri N, Shivaram S - J Pediatr Neurosci (2015 Apr-Jun)

(a) Fixed facial expression, bushy eyebrows, decreased palpebral fissure, low placed ears, pursed lips, micrognathia with myotonic spasm of the chin muscles, (b) difficulty in opening the jaw completely, (c) mild flexion at the elbow, broad base while standing
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489067&req=5

Figure 1: (a) Fixed facial expression, bushy eyebrows, decreased palpebral fissure, low placed ears, pursed lips, micrognathia with myotonic spasm of the chin muscles, (b) difficulty in opening the jaw completely, (c) mild flexion at the elbow, broad base while standing
Mentions: Examination showed short statured boy (height-145 cm, arm span-148 cm, upper segment-70 cm, and lower segment-75 cm), his palpebral fissure was narrow at rest (6 mm gap between upper and lower eyelids) and when attempting to close and open it was becoming still narrower. Patient showed no fatigability. He had bushy eyelashes, flat forehead, receding chin, pursed mouth, high arched palate, and pinched upturned nose. He had a peculiar spasm visible in facial muscles, malocclusion, short neck with neck extensor contractures, mild kyphosis in the thoracolumbar region, bilateral flat foot, and hallux valgus [Figure 1a–c]. His gait showed ankle externally rotated causing a wide base pelvis which moved en bloc and left hip tilted down. His calf muscles were prominent, and there was transient percussion myotonia in the left thenar muscles. The tone, power, reflexes, and sensations were normal in all groups.

Bottom Line: Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features.Diagnosis is made by awareness into the typical phenotypic characters.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

ABSTRACT
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

No MeSH data available.


Related in: MedlinePlus