1.
Klin Padiatr
; 228(1): 47-8, 2016 Jan.
Artículo
en Alemán
| MEDLINE
| ID: mdl-26766671
Asunto(s)
Aberraciones Cromosómicas , Análisis Mutacional de ADN , Mutación del Sistema de Lectura/genética , Genes Recesivos/genética , Enfermedad de Niemann-Pick Tipo A/diagnóstico , Enfermedad de Niemann-Pick Tipo A/genética , Esfingomielina Fosfodiesterasa/genética , Femenino , Tamización de Portadores Genéticos , Humanos , Lactante
2.
Minerva Endocrinol
; 37(3): 283-9, 2012 Sep.
Artículo
en Inglés
| MEDLINE
| ID: mdl-22766895
RESUMEN
Hajdu-Cheney syndrome (HCS) is a rare disorder principally characterized by acro-osteolysis, distinctive craniofacial and skull changes, dental anomalies and short stature. A common finding in HCS patients is secondary osteoporosis that progresses over time and contributes to various skeletal problems, especially fractures. Although autosomal dominant inheritance has been documented in several families, sporadic (non-familial) cases have also been reported. Here, a case of a 9-year-old girl with familial HCS and multiple spinal fractures, who has been effectively treated with pamidronate, is presented. This is the first report of a beneficial effect of intravenous bisphosphonate administration on a child with HCS-related osteoporosis.