Pallister-Hall syndrome in a 2-years-old girl.

INTRODUCTION: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characterized by significant variability in the expression of clinical symptoms. The clinical course ranges from mild with a good prognosis to severe and which can lead to death during the neonatal period. CASE REPORT: Two-years-old girl with facial dysmorphia, skeletal malformations of hand and feet and growth hormone deficiency. PHS was diagnosed on the basis of the presented symptoms and genetic tests. SUMMARY: Skeletal malformations, such as polydactyly or oligodactyly, are a markers which can be associated with endocrinological disorders. Quick and correct diagnosis would help in planning treatment during childhood and giving family counseling, including prenatal advice regarding the next pregnancy of the child's mother.

Síndrome de Killian-Pallister: reporte de un caso en terapia de rehabilitación interdisciplinaria / Killian-Pallister syndrome: Case report of interdisciplinary rehabilitation therapy

El Síndrome de Killian-Pallister es una alteración genética, no hereditaria, causado por distribución en mosaico tisular de un isocromosoma adicional 12p, poco frecuente a nivel mundial. Los pacientes presentan dismorfia facial, características clínicas distintivas y deficiencia mental. Se reporta el primer y único caso atendido en un centro de rehabilitación especializado en el país y se describen las características clínicas, deficiencias, discapacidades y el manejo oportuno con rehabilitación interdisciplinaria. Los resultados muestran una evolución favorable en el tratamiento rehabilitador.

Killian-Pallister's syndrome is a rare, non-hereditary, genetic alteration caused by a mosaic distribution of an additional isochromosome 12p. Patients present with facial dismorphic features and mental deficiency. We report here the first case of this syndrome in the country, which was attended at a specialized rehabilitation center, and describe the clinical features and the proper interdisciplinary management. The patient had a favorable clinical evolution.