Meier-Gorlin syndrome
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(microtia syndrome-skeletal abnormalities-short stature)
Estimated prevalence of < 1.106. Autosomal recessive transmission except for type 6 where it is dominant. It belongs to the group of primordial dwarfisms because growth delay starts in utero.
Depending on the gene involved, 8 types are distinguished:
- type 1: mutation of the ORC1 gene (1p32.3) [MIM 224 690]
- type 2: mutation of the ORC4 gene (2q23.1) [MIM 613 800]
- type 3: mutation of the ORC6 gene (16q11) [MIM 613 803]
- type 4: mutation of the CDT1 gene (16q24) [MIM 613 804]
- type 5: mutation of the CDC6 gene (17q21) [MIM 613 805]
- type 6: mutation of the GMNN gene (6p22) [MIM 616 835]
- type 7: mutation of the CDC45L gene (22q11) [MIM 617 063]
- type 8: mutation of the MCM5 gene (22q12) [MIM 617 564]
The mutations of the ORC1 and ORC4 genes produce the most severe clinical presentations.
Clinical presentation:
The classic triad is:
- harmonious dwarfism due to prenatal growth retardation (average population weight - 3.8 SD), but growth resumes with normal velocity after 1 year of age (without catch up),
- microtia, more or less severe hypoplasia of the ear pavilions
- absence of patellae (early gonarthrosis)
In addition
- facial dysmorphism: high forehead, microretrognathia, small mouth with full lips, accentuated nasolabial folds
- microcephaly (43 %)
- laryngotracheomalacia (42 %)
- congenital pulmonary emphysema (43 %)
- hypogenitalism: small testicles or cryptorchidism. In women: hypoplasia of the labia majora and small breasts; sparse hair, no axillary hair
- sometimes: dislocation of the elbow, hooked clavicles, clinodactyly, flattened long bones epiphyses, genu recurvatum
- delayed bone age
Anesthetic implications:
short stature. Risk of difficult intubation; check the chest XRays (emphysema ?)
References:
- de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NVAM et al.
Meier-Gorlin syndrome.
Orphanet J Rare Diseases 2015 ; 10 :114
Updated: July 2020