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A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular atrophy should be considered in the differential diagnosis of reduced fetal movements.
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AMC (which can be also described as fetal muscle cicatrisation) is a term describing the presence of various arthrogenic contractures at the moment of birth, limiting, to a certain degree, the range of joints mobility. The incidence of the disease is low--1 per 3,000 births and it is usually not determined genetically. In a 12-year-old patient treated in Paedodontic Dentistry Department of the Medical University of Lublin the contractions were observed in elbow joints, wrist joints and ankle joints. Dental examination revealed microgenia, limited mobility in temporo-mandibular joints and delayed teething. DMF mean value of permanent teeth was 4. Earlier the patient has not undergone any dental treatment. The conservative and orthodontic treatment applied was difficult due to limited mandible abduction (2-3 cm) and limited lateral movements. Children and adolescents with such diseases should undergo intensive prophylactic procedures because their dental treatment is very complicated.
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