Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism.
Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis. Some cases are seen with occipital exencephalocele. The long bones are short and bent with metaphyseal flaring. The vertebral bodies are of different size and many consist of separate ossified masses. The iliac bones are small with hypoplasia of the horizontal and inferior margina. Maturation of cartilage cells at the epiphyseal plates is grossly disturbed and there are puddle-like spaces among the resting cartilage cells.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities; D002356:Cartilage / Q000002:abnormalities; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000151:congenital*; D006330:Heart Defects, Congenital; D006628:Hirsutism / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome