1.
2.
Indian J Hum Genet
;
2014 Jan-Mar ;20 (1): 92-95
Artículo
en Inglés
| IMSEAR
| ID: sea-156643
RESUMEN
Split‑hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.
Asunto(s)
Adolescente , Adulto , Niño , Familia/historia , Femenino , Genes Dominantes/genética , Genes Recesivos/genética , Humanos , India , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/epidemiología , Deformidades Congénitas de las Extremidades/genética , Masculino
3.
Indian J Hum Genet
;
2013 Apr; 19(2): 270-272
Artículo
en Inglés
| IMSEAR
| ID: sea-149441
RESUMEN
Sclerosteosis or Truswell-Hansen disease is a rare autosomal recessive disorder characterized by dense bones, tall stature, and syndactyly. Most of the reports are from South Africa. Here we report the first such case from India.