Síndrome femoral facial en un hijo de madre con diabetes gestacional / Femoral facial syndrome in a child of a mother with gestational diabetes

RESUMEN

El Síndrome Femoral Facial (SFF) o Síndrome de Hipoplasia Femoral, Facies Inusual (SHFFI), es una asociación rara de anomalías femorales y faciales. La diabetes materna ha sido implicada como agente causal. En este trabajo se describe a un niño con el síndrome de hipoplasia femoral, facies inusual. El mismo tiene las características faciales típicas, de fisuras palpebrales de inclinación mongoloide, filtrum largo con labio superior fino, alaenasi hipoplásicos y micrognatia. Presentaba también anomalias de miembros superiores, costillas, vértebras, y miembros inferiores. Insuficiencia de la válvula tricúspide y defecto de tubo neural. No hay antecedentes familiares. Se le diagnóstico diabetes gestacional a la madre, a las 20 semanas se reporta este caso para resaltar y reforzar la relación de la diabetes gestacional con el Síndrome Femoral Facial.

ABSTRACT

The Femoral Facial Syndrome (FFS) or Femoral Hypoplasia­Unusual Facies Syndrome (FHUFS) is a rare association of femoral and facial abnormalities. Maternal diabetes has been mainly involved as the causative agent. The case of a child with Femoral Hypoplasia, Unusual Facies Syndrome is described here. He had characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, hypoplastic alae nasi and micrognathia. He also had upper limb involvement, rib, vertebral and lower extremities abnormalities, tricuspid valve insufficiency and a neural tube defect. He did not have a positive family history. His mother had gestational diabetes detected at 32 weeks of gestation. We report this case to stress the relationship between Femoral Facial Syndrome and maternal gestational diabetes.