Home            Past Issues            About IP            About IAP           Author Information            Subscription            Advertisement              Search  

   
images

Indian Pediatr 2019;56: 799

3M Syndrome: A Rare Cause of Short Stature


Indar Kumar Sharawat1, Arun Kumar2 and Lesa Dawman3

From Departments of 1Pediatrics and 2Oral health, PGIMER Satellite Centre, Una, Himachal Pradesh; and 3Department of Pediatrics, PGIMER, Chandigarh; India.

Email: 3 [email protected]

 


The Miller-McKusick-Malvaux (3M) syndrome (OHIM #273750) is a rare autosomal recessive disease characterized by severe intrauterine and postnatal growth retardation with dysmorphic facial features called gloomy face, and skeletal abnormalities.


(a)

(b)

Fig. 1. Dysomorphic features in a child with 3M syndrome. (a) Triangle-shaped face with frontal bumps, hypoplastic midface, provided eyebrows, an upturned nose with a fleshy tip, long philtrum, full lips and a pointed chin; (b) Frontal bumps, upturned nose and long phitru.

The characteristic features, present at birth are: a relatively large head, dolichocephaly, frontal bumps (Fig. 1 a and b), a triangular face, a pointed chin (Fig. 1 a), an up-turned nose, full lips, provided eyebrows, a long philtrum, and malar hypoplasia (Fig. 1 a). Skeletal abnormalities include short neck, prominent trapezius, square shoulders, short thorax, pectus excavatum, hyperlordosis,very flexible joints, short fifth finger (Fig. 2 a) and short and prominent heels (Fig. 2 b) which are almost pathognomonic of the syndrome.


(a)

(b)

Fig. 2 Short fifth finger (a), and short prominent heels (b) in a child with 3M syndrome.

Differential diagnoses include Silver-Russel Syndrome, Dubowitz Syndrome, MULIBREY Dwarfism and Fetal Alcohol Syndrome. There is no specific treatment for 3M syndrome. However, the use of recombinant human GH for the treatment of short stature has been suggested.

 

Copyright © 1999-2019 Indian Pediatrics