lethal Kniest-like dysplasia
Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
MONDO:0005516
osteochondrodysplasia
is_a
Kniest like dysplasia lethal
related
arthrosis, flat face, hypotonia, short neck and macrocephaly
related