[MIM 273 750, 612 921, 614 205]

(Dwarfism 3M, Le Merrer syndrome, sulky facies syndrome, dolichospondylic dysplasia , gloomy face syndrome)

Very rare. '3M' is an acronym for the names of the authors who described it: Miller, Mc Kusick and Malvaux. This dwarfism starts at the intrauterine stage without any hormonal abnormality (normal level of GH) .

Autosomal recessive transmission of mutations of the CUL7 gene (6p21.1) in 75 % of cases, or of the OBSL1 (2q35) (16 %) or CCDC8 gene (19q13.2 - q13.32).

Association

- pre- and post-natal growth delay: short stature (final  height: -5 to 6 SD below normal), well proportioned

- facial dysmorphism: relatively large head (it is actually normal but appears large compared to the size of the body) with triangular or rounded face, dolichocephaly, frontal bossing, malar hypoplasia, long philtrum with full lips (sulky facies) and thick eyebrows;

- characteristic radiological abnormalities: anterior flattening of the vertebral bodies: their anteroposterior diameter is decreased, especially at the lumbar level (sometimes spina bifida occulta), slender long bones, thin and horizontal ribs, delayed bone maturation, poorly developed pelvic bones, dislocation of the hip

and sometimes:

- short neck and square shoulders

- clinodactyly

- short chest

- pectus excavatum or carinatum

- hyperlordosis, kyphoscoliosis

- very flexible joints

- for the boys: gonadal insufficiency associated with a normal puberty (but subfertility). sometimes hypospadias.

Intelligence is normal but the phenotypic presentation is highly variable.

Anesthetic implications : 

by analogy with achondroplasic dwarfism, it is probably advised  to choose the endotracheal tube size according to weight rather than to age; increased risk of bronchial intubation (short trachea) ? If a  neuraxial block is planned, check the absence of spina bifida occulta.

References : 

-         Huber C, Munnich A, Cormier-Daire V. 
The 3M syndrome. 
Best Pract Res Clin Endocrinol Metab 2011; 25: 143-51.

-        Le Merrer M, Brauner R, Maroteaux P. 
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. 
J Med Genet 1991; 28: 186-91.

-        Güven A, Cebeci AN. 
3 M syndrome: a report of four cases in two families. 
J Clin Res Ped Endo 2011; 154-9.

-        Tsiotou AG, Malisiova A, Kalliardou E. 
The child with 3M syndrome: are there any anaesthetic considerations? 
Eur J Anaesthesiol 2012; 29: 598-600

-         Galea M, Comara S.
Anaesthesia for emergency caesarean section in a woman with 3M syndrome. 
Int J Obstetr Anaesth 2008; 17: 197-8.

Updated November 2012