Pathology

Fetus

Pathological

Osteochondrodysplasia

Biology

Dysplasia

Prenatal diagnosis

Differential diagnosis

Pregnancy

Genetics

Medicine

Clinical Genetics

Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented.

Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia