Schwartz-Jampel syndrome

A rare syndrome characterised by myotonia and osteoarticular abnormalities.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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PMID (PMCID)
22610743
 FEMALE
Schwartz-Jampel syndrome.
Bastola P.
Kathmandu Univ Med J (KUMJ). 2010;8(31):348-51.
This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
12221624
 MIXED_SAMPLE Adult
[Schwartz-Jampel syndrome: a description of two adult siblings].
Carod-Artal FJ, Fernandes da Silva TV, Christino-Marinho PB, Bonfim-Souza D.
Rev Neurol. 2002;35(2):131-4.
Schwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which is diagnosed in childhood.
11704053
 FEMALE Child
Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome.
Lucci LM, Yen MT, Anderson RL, Hwang IP, Black RE.
Am J Ophthalmol. 2001;132(5):799-801.
Schwartz-Jampel syndrome is a disorder of continuous myotonia causing blepharospasm, acquired ptosis, and blepharophimosis.
11704053
 FEMALE Child
Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome.
Lucci LM, Yen MT, Anderson RL, Hwang IP, Black RE.
Am J Ophthalmol. 2001;132(5):799-801.
Two patients with Schwartz-Jampel syndrome presented with blepharospasm, acquired ptosis, and blepharophimosis.
8256816
 FEMALE
Schwartz-Jampel syndrome: an atypical form?
Figuera LE, Jimenez-Gil FJ, Garcia-Cruz MO, Cantu JM.
Am J Med Genet. 1993;47(4):526-8.
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.
3321990
 MALE Infant, Newborn
Neonatal manifestations of Schwartz-Jampel syndrome.
Farrell SA, Davidson RG, Thorp P.
Am J Med Genet. 1987;27(4):799-805.
Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy.
3154564
 FEMALE
Acquired blepharophimosis in a patient with juvenile blepharospasm.
Patrinely JR, Anderson RL.
Ophthalmic Plast Reconstr Surg. 1986;2(4):205-8.
At 4 years of age, a young girl with Schwartz-Jampel syndrome developed blepharospasm with resultant blepharophimosis.