Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs

Cleft lip and palate, characteristic fac

Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: A new autosomal recessive condition?

✍ McPherson, Elizabeth; Clemens, Michele 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was n