Meier-Gorlin syndrome

Orphanet Journal of Rare Diseases

Ernie MHF Bongers³  Andrew P. Jackson²  Han G. Brunner³  Nine VAM Knoers¹  Jeroen Schoots³  Jolt Roukema⁵  Elisabeth H. Hoefsloot⁴  Sonja A. de Munnik³ 

[1] Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands;Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK;Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands;Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands;Department of Pediatrics, Division of Respiratory Medicine, Radboud University Medical Center, Amalia Children’s Hospital, Nijmegen, The Netherlands

关键词: Origin recognition complex;    Pre-replication complex;    Patellar a-/hypoplasia;    Short stature;    Microtia;    Ear patella short stature syndrome;    Meier-Gorlin syndrome;   

Others  :  1225180
DOI  :  10.1186/s13023-015-0322-x

 received in 2015-02-07, accepted in 2015-08-18,  发布年份 2015

【 摘 要 】

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78 % of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly.

Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased.

Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.

【 授权许可】

   
2015 de Munnik et al.

【 图 表 】

Fig. 1.

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