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Quoted phrase not found in phrase index: "Arthrogryposis-like syndrome"
Page 1
XK-aprosencephaly and related entities.
Am J Med Genet A. 2005 Nov 1;138(4):401-10. doi: 10.1002/ajmg.a.30600.
Am J Med Genet A. 2005.
PMID: 16208689
Review.
We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). ...Both had apparently normal chromosomes; however, t …
We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, th …
Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication.
Sherer DM, Hsieh V, Kheyman M, Field A, Dalloul M.
Sherer DM, et al.
J Clin Ultrasound. 2021 Jul;49(6):622-624. doi: 10.1002/jcu.23007. Epub 2021 Mar 28.
J Clin Ultrasound. 2021.
PMID: 33778969
Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times conge …
Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like muscul …
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Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.
Tauseef U, Ibrahim M, Noor N, Hanif M.
Tauseef U, et al.
J Ayub Med Coll Abbottabad. 2023 Apr-Jun;35(2):341-347. doi: 10.55519/JAMC-02-11056.
J Ayub Med Coll Abbottabad. 2023.
PMID: 37422836
Free article.
Bruck syndrome or BRKS1 is an extremely rare condition characterized by the onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and progressive scoliosis. Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck …
Bruck syndrome or BRKS1 is an extremely rare condition characterized by the onset of fractures in infancy, joint contractures, short …
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Separating monosomy-21 from the "arthrogryposis basket".
Houston CS, Chudley AE.
Houston CS, et al.
J Can Assoc Radiol. 1981 Dec;32(4):220-3.
J Can Assoc Radiol. 1981.
PMID: 7328100
The clinical and radiologic findings suggested arthrogryposis, Infants with monosomy-21 have severe intrauterine growth retardation, failure to thrive, arthrogryposis-like findings with restriction of joint mobility, often with joint dislocations, and flexion deform …
The clinical and radiologic findings suggested arthrogryposis, Infants with monosomy-21 have severe intrauterine growth retardation, failure …
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