Achondroplasia. (Chondrodystrophia fætalis)

Abstract

RY R. LAWPORD KNAGGS, LONDON. UU.\SULTI.\G SURCEOK TO THE LEEDS ROYAL INFIRMARY.TIJE condition known as achondroplasia is the consequence of a defective Poolution of the process of endochondral ossi$cation, which is in evidence at a rer,y early period of intra-uterine lcfe. The pre-ossification changes in the cartilage are probably influenced froni the outset, and the chief stress of the disease falls upon the foetus. This perversion of endochondral ossification is rcsponsible for certain signs by which those in whom the affection is well marked can readily be recognized. These unfortunate individuals arc : (1) Dwarfs ; (2) Those with very short limbs, and a nearly normal-sized trunk ; arid (3) Those who have large heads arid a peculiar facies.At one time achondroplasia wa5 confused with rickets, and the term '.frrtal rickets' was applied to certain obscure affections of congenital origin which have since been differentiated into achondroplasia, osteogenesis impcrferta. and sporadic cretinism ; but a certaiii haziness still attachcs to it. for a dortbt still lurks in many minds as to the existence of such a disease as intra-uterine rickets, though theorctically there is no reason why it should not occur, and certain interesting facts in favour of it are on record.It was H. Muller, who, in 1860, recognizcd, as distinct from rickets. an affection whirh ran its whole oourse during intra-uterine life, and resulted i n a diaracteristic appearance of thc fmtus. Parrot, in 1878, gave to this intrauterine aflcction the name ' achondroplasia ', and in 1892 Kaufmann. who wrote more than one monograph on the subject, and studied its pathology minutely, called it ' chondro-dystrophia fmtalis '.* At first it was thought that the achoridroplasic fwtiis never survived, but was stillborn at the cighth month, but now it is well known that children and adults presenting unnii+ takablc signs of the disease arc to be seen occasionally going about their ordinary avoc*ations. Moreover, we know from archaeological records that the achondroplasic individual has been rerognizcd froni the earliest times.? Thrrc seems to be no reason why those cases that are born alive and survive thc first year should not livc for the ordinary term of human life, and some are mentioned by Emerson as having attained to thc ages of 84, 66, 48. and 41 years respectively. * Vor fiirthrr information or1 the history, scc Marie, Prrsse nu'd., 1900, July 14, 17.t h i intrrrstirig note by Georgc Pernet (Rril. ./our. Child. I&., i, 17) refers to a *' number of glazed carthenwrrre figures (statucttes) most of thrni of sonie shade of green " in the British 3Iuseum (Third Egyptian Rooin). Thesc portray the deformity of achondroplasia, and are representations of the Egyptian god Ptah-Seker-Asar, the triune God of the Resurrection (1)r. E:. A. Budge). Janseri, in his monograph," Achondroplasia ; its Nature and Causc", gives 2111 illustratiori of the god nes-the Egyptim god of sexual intrrcourse (Rlliot-Smith).

Histology and Histochemistry of the Long Bones in Micromelia

“…In other respects ossification appears to proceed normally. The cartilage cells mature and align themselves normally so this condition is easily distinguished from achondroplasia where one of the outstanding abnormalities is the failure of the cartilage cells of the epiphysis to align in normal palisades (Knaggs, 1927;Harris and Russell, 1933;Pearce and Brown, 1945;Weinmann and Sicher, 1947;Potter, 1952).…”