Dysplastic cortical hyperostosis, Al-Gazali type

Definition

A rare dysplastic cortical hyperostosis characterized by brachycephaly, short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses, extremities with severe brachydactyly and facial dysmorphism (including flat face, hypertelorism and low-set ears). Additional clinical features include hypoplastic thorax and hypertrichosis. Histology of the bone tissue and the growth plate are normal. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.