1.
Klin Padiatr
; 228(1): 47-8, 2016 Jan.
Artigo
em Alemão
| MEDLINE
| ID: mdl-26766671
Assuntos
Aberrações Cromossômicas , Análise Mutacional de DNA , Mutação da Fase de Leitura/genética , Genes Recessivos/genética , Doença de Niemann-Pick Tipo A/diagnóstico , Doença de Niemann-Pick Tipo A/genética , Esfingomielina Fosfodiesterase/genética , Feminino , Triagem de Portadores Genéticos , Humanos , Lactente
2.
Minerva Endocrinol
; 37(3): 283-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22766895
RESUMO
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.