Literature DB >> 8423186

A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children.

H H Steel1, R W Piston, M Clancy, R R Betz.   

Abstract

An orthopaedic syndrome that apparently had not been reported previously was identified in twenty-three children. Characteristics shared by all twenty-three children included Hispanic descent, residence in Puerto Rico, bilateral dislocation of the hip, dislocated radial heads, short stature, and other osseous anomalies. Twelve dislocated hips in six patients were not treated. All of these hips were functioning satisfactorily at the time of the review, but only four of the children had reached skeletal maturity. Sixteen hips in eight patients remained reduced after closed reduction. Of these eight patients, the four who were skeletally immature at the time of the review had a satisfactory result, and the four who were skeletally mature had an unsatisfactory result because of discomfort or fibrous ankylosis. Eighteen hips in nine patients were treated with a reduction augmented by some form of operation. All of these hips redislocated. Of the forty-six elbows in the twenty-three children, thirty-three were dislocated, as seen clinically and radiographically; eight were normal, both clinically and radiographically; and there was dysplasia at the radiocapitellar articulation of the remaining five. Twenty of the twenty-three children were found to have carpal coalitions. Fourteen children had scoliosis, and five of them were managed with spinal arthrodesis and correction. Three patients had an anomaly of the cervical spine, with one deformity causing symptoms and signs that were treated with decompression. Eight patients had talipes cavus bilaterally, which was not treated.

Entities:  

Mesh:

Year:  1993        PMID: 8423186     DOI: 10.2106/00004623-199302000-00013

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN: 0021-9355            Impact factor:   5.284


  5 in total

1.  Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Authors:  Claudia Gonzaga-Jauregui; Candace N Gamble; Bo Yuan; Samantha Penney; Shalini Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Jacqueline T Hecht
Journal:  Eur J Hum Genet       Date:  2014-07-02       Impact factor: 4.246

2.  Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Authors:  Nelimar Cruz-Centeno; Jean F Saenz-Maisonet; Paola M López-Dones; Alberto Santiago-Cornier; Victor N Ortiz-Justiniano
Journal:  Am J Case Rep       Date:  2022-05-18

3.  A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Authors:  Laura Pölsler; Ulrich A Schatz; Burkhard Simma; Johannes Zschocke; Sabine Rudnik-Schöneborn
Journal:  Am J Med Genet A       Date:  2020-01-08       Impact factor: 2.802

4.  Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Authors:  Jong Seop Kim; Hyoungseok Jeon; Hyeran Lee; Jung Min Ko; Yonghwan Kim; Murim Choi; Gen Nishimura; Ok-Hwa Kim; Tae-Joon Cho
Journal:  Hum Genome Var       Date:  2021-05-07

5.  Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Authors:  Gillian Morven Belbin; Jacqueline Odgis; Elena P Sorokin; Muh-Ching Yee; Sumita Kohli; Benjamin S Glicksberg; Christopher R Gignoux; Genevieve L Wojcik; Tielman Van Vleck; Janina M Jeff; Michael Linderman; Claudia Schurmann; Douglas Ruderfer; Xiaoqiang Cai; Amanda Merkelson; Anne E Justice; Kristin L Young; Misa Graff; Kari E North; Ulrike Peters; Regina James; Lucia Hindorff; Ruth Kornreich; Lisa Edelmann; Omri Gottesman; Eli Ea Stahl; Judy H Cho; Ruth Jf Loos; Erwin P Bottinger; Girish N Nadkarni; Noura S Abul-Husn; Eimear E Kenny
Journal:  Elife       Date:  2017-09-12       Impact factor: 8.140

  5 in total

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