Clinical genetics / edited by Arnold Sorsby.

Date:
1953
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Clinical genetics / edited by Arnold Sorsby. Source: Wellcome Collection.

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    SKELETAL SYSTEM, INCLUDING JOINTS PHAKOMATOSES These too have significant osseous lesions. Neurofibromatosis.—This is discussed on page 232. Various osseous changes have been recognized as associated with neurofibromatosis ; they include scoliosis, abnormalities of growth (usually elephantiasis), subperiosteal bone cysts, and pseudo-arthrosis (Fig. 145). Skeletal manifestations are present at least in 1 case in 10 and it appears that overgrowth of the affected part is the most common lesion in childhood. Tuberous sclerosis {epiloia)—This too is discussed elsewhere (page 231). The skeletal system may present bone cysts (Fig. 146), melorheostosis, and generalized fibrosis especially of the metatarsal and metacarpal bones and phalanges. Sturge-Weber syndrome {cephalo-facial angiomatosis).—The Sturge-Weber syndrome shares with other phakomatoses the presence of congenital naevi (or phako spots), cystic lesions of the viscera, congenital malformation of structure and the central nervous system. Characteristic of the syndrome is the presence of facial angiomatosis and the associated angiomas of the meninges on the affected side. Atrophy and localized homolateral skull anomalies may be seen. Koch (1940) reported several people affected in a 4-generation pedigree suggesting a dominant form of transmission but with considerable intra-familial variability of expressivity. The author has personally encountered an affected mother and her one son among 3 sibhngs. OTHER AFFECTIONS On the following possibly hereditary diseases the available genetic information is as yet incomplete. (1) Pyle's disease—a congenital symmetrical splaying of the long bones. (2) Fibroplastic diathesis—Badgley (1953)—characterized by the extensibility of joints and hyperelasticity of the cutaneous tissue. (3) Arthrogryposis multiplex congenita—maldevelopment of the mesenchyme (muscle). (4) Turner's syndrome—ovarian dysplasia. (5) Engelmann's disease—progressive diaphyseal dysplasia. (6) Melorheostosis—questionably associated with epiloia. (7) Familial fibrous swelling of the jaws. (8) Osteochondral dystrophy—François (1949). (9) Milkman's disease—multiple spontaneous idiopathic symmetrical fractures. (10) Osteopathia striata—vertical striations in the metaphyses of the long bones. (11) Hyperostosis frontalis interna, Stewart-Morel syndrome. (12) Hereditary multiple diaphyseal sclerosis—Ribbing (1950). 258