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Indian Pediatr 2019;56: 799 |
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3M
Syndrome: A Rare Cause of Short Stature
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Indar Kumar Sharawat 1,
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]
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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.
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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.
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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.
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