Achondroplasia, Brachydactyly, and Cranio-Cleido-Dysostosis: Their Nature and Causation—A Preliminary Sketch
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The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic and there is, on average, an increased paternal age at the time of conception of affected individuals. More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor rec...
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Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many dif...
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Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually enc...
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