Literature DB >> 1770537

Microtia and short stature: a new syndrome.

B Cohen1, I K Temple, J C Symons, C M Hall, D G Shaw, M Bhamra, A M Jackson, M E Pembrey.   

Abstract

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et al.

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Year:  1991        PMID: 1770537      PMCID: PMC1017116          DOI: 10.1136/jmg.28.11.786

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  The 3-M syndrome: a heritable low birthweight dwarfism.

Authors:  J D Miller; V A McKusick; P Malvaux; S Temtamy; C Salinas
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

Authors:  J A Hurst; R M Winter; M Baraitser
Journal:  Am J Med Genet       Date:  1988-01

3.  A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

Authors:  D Duca; I Pană; M Ciovirnache; L Simionesu; I Ispas; C Maxililian
Journal:  Am J Med Genet       Date:  1981
  3 in total
  3 in total

1.  Microtia, absent patellae, short stature, micrognathia syndrome.

Authors:  R J Gorlin
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

Review 2.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923

Review 3.  Meier-Gorlin syndrome.

Authors:  Sonja A de Munnik; Elisabeth H Hoefsloot; Jolt Roukema; Jeroen Schoots; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123

  3 in total

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