Lombardo-Aburto E, Rodríguez-González G, Del Castillo-Ruiz V, Yokoyama-Rebollar E

Language: Spanish
References: 7
Page: 230-233
PDF size: 312.78 Kb.

ABSTRACT

Background: Acromandibular dysplasia is an autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, and lipodystrophy. MAD is divided into two types, with different phenotypes depending on the mutated gene, either LMNA or ZMPSTE24; when the phenotype is early onset, a variant is found in ZMPSTE24 gene, which is associated with type B. The main differential diagnoses to consider are progeroid syndromes. It is necessary to carry out an exome study in search of variants of both reported genes, either to confirm the clinical diagnosis or to rule it out.
Clinical case: A 7-month-old female with mandibular hypoplasia, lipodystrophy, and hyperpigmentation, suggesting the diagnosis of early-onset acromandibular dysplasia.
Conclusion: This entity requires a comprehensive approach in a tertiary hospital, with close follow-up by pediatricians since complications in these patients lead to premature death. Progeroid phenotypes must be known to suspect and diagnose them.

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