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Revista chilena de pediatría

Print version ISSN 0370-4106

Abstract

ARACENA A, Mariana et al. 3-M syndrome: clinical and radiological description: Case report. Rev. chil. pediatr. [online]. 2012, vol.83, n.6, pp.587-594. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062012000600009.

Introduction: 3M syndrome combines severe prenatal and postnatal growth delay, facial dysmorphism (resembles melancholy facies) and radiological abnormalities. It is a rare disease with 200 cases reported so far. "3M" refers to the initials of the three authors who first described this syndrome. The characteristic facial features are: relatively large head, dolichocephaly, frontal bossing, a triangular face, pointed chin, upturned nose, full lips, full eyebrows, long philtrum and hypoplastic midface. radiological findings which appear with age, include slender long bones and ribs and tall vertebral bodies. 3M syndrome is transmitted as an autosomal recessive trait and is genetically heterogeneous. Objective: Report the clinical case of a girl, now 10 years of age, diagnosed with the syndrome. Case report: An infant girl, 15 months old, was referred to Genetics Clinic due to severe short stature, dysmorphic features and malformations. Her clinical and radiological follow-up led to propose and confirm this diagnosis. Conclusion: Sometimes only longitudinal monitoring of patients with severe short stature evidence abnormalities suggesting a specific diagnosis. The right diagnosis results in suitable clinical care and genetic counseling to parents.

Keywords : McKusick-Malvaux-Miller Syndrome (3M); Fetal growth retardation; Dwarfism; Spine abnormalities.

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