1.
2.
Indian J Hum Genet
; 2014 Jan-Mar ;20 (1): 92-95
مقالة
ي الانجليزية
| IMSEAR
| ID: sea-156643
الملخص
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.
الموضوعات
Adolescent , Adult , Child , Family/history , Female , Genes, Dominant/genetics , Genes, Recessive/genetics , Humans , India , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Limb Deformities, Congenital/genetics , Male
3.
Indian J Hum Genet
; 2013 Apr; 19(2): 270-272
مقالة
ي الانجليزية
| IMSEAR
| ID: sea-149441
الملخص
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.