A Family showing Cleido-cranio-dysostosis

Cranio-facial Dysostosis in a Dorset Family.

Crouzon (1912), whose name has been given to the combination of developmental anomalies which he described as hereditary cranio-facial dysostosis, presented his first two cases to the Societe Medicale des H6pitals de Paris. The patients, a mother aged 29 years and her son aged 21 years, had a malformation of the cranial vault consisting of protrusion in the region of the bregma, widening transv...

Achondroplasia, Brachydactyly, and Cranio-Cleido-Dysostosis: Their Nature and Causation—A Preliminary Sketch

cranio-spondylo-tubular dysostosis a unique historic iranian giant

severe overgrowth and tallness is very rare in human beings. the most common cause is gigantism due to the excessive secretion of the growth hormone, especially, before the closure of long bones’ epiphyseal growth plates. there are other rare disorders that are categorized on overgrowth syndromes. herein, we report an extremely rare, or even perhaps a unique, patient from iran. the clinical and...

A family with diaphyseal aclasis and peripheral dysostosis.

Autosomal dominant inheritance of a type of peripheral dysostosis occurred in a family with diaphyseal aclasis. The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.

A Case Report: Nager Acrofacial Dysostosis

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...