2017, Number 2
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Rev Med MD 2017; 8.9 (2)
Meir Gorlin Syndrome
Soto-Brambila AP, Marín-Medina AA
Language: Spanish
References: 9
Page: 182-186
PDF size: 578.83 Kb.
ABSTRACT
Meir Gorlin Syndrome (SMG) (# 224690) is also known as "ear-knee-short stature" syndrome. It is mainly caused by
a homozygous or heterozygous mutation composed of the ORC1 gene, located on chromosome 1p32. It has genetic
heterogeneity, there are 6 types, most with autosomal recessive inheritance. It is characterized by intrauterine growth
retardation (IUGR) and postnatal growth, microcephaly, bilateral microtia and aplasia or hypoplasia of patella, with
generally normal intellect. The objective is to present two unrelated patients with a 10-year-old male and female patients
with Meier Gorlin syndrome type 1, the latter being the second report in the Mexican population. Discussion and
conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as
its evolution, management and genetic counseling. Differential Diagnosis: Seckel Syndrome, Osteodysplastic
Microcephalic Primordial Dysmenial Syndrome (MOPD) Type I, II and III, RAPADILINO.
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