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de Munnik SA
; Hoefsloot EH
; Roukema J
; Schoots J
; Knoers NV
; Brunner HG
; Jackson AP
; Bongers EM
Orphanet J Rare Dis
2015[Sep]; 10
(?): 114
PMID26381604
show ga
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.
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