Bone Dysplasia, Lethal, Holmgren Type
Clinical Features
Holmgren et al. (1984) observed 3 sibs, offspring of unrelated Finnish parents, with a 'new' bone dysplasia. The limbs were very short, especially in the proximal parts. The thorax was narrow, and there was no spinal involvement. Knobby, rounded ends of the femurs and radii were distinctive features. Prenatal diagnosis by x-ray was made at 18 weeks' gestation in 1. One sib was stillborn, and the other 2 sibs died at 2 and 3 months of age.
InheritanceHolmgren et al. (1984) stated that the inheritance pattern of this bone dysplasia is most likely autosomal recessive.