Hereditary Myopathy, Oligophrenia, Cataract, Skeletal Abnormalities and Hypergonadotropic Hypogonadism

Publisher Website
Google Scholar
Abstract
A new syndrome in three siblings, a man and two women, now aged 33–45 years, is described. The syndrome consists of the following symptoms: (1) Oligophrenia (IQ about 30, Terman-Merrill test) with harmonic infantilism. (2) Dense cataract with onset in childhood. (3) Myopathy, mainly affecting proximal muscles but also facial, masticatory and external ocular muscles. The myopathy probably had its onset at puberty and progressed in 2 of the 3 siblings until they were confined to a wheel-chair. (4) Signs of pyramidal tract involvement and slight ataxia, probably congenital and non-progressive. (5) Deficient speech development. (6) Skeletal changes including thoracic deformity, scoliosis, pes planovalgus, shortening of the fourth toe and osseous dystrophy especially in the hand and feet. (7) Hypergonadotropic hypogonadism with primary amenorrhoea in one of the sisters, very early menopause in the other and pronounced testicular atrophy in the brother. There were no signs of other endocrine insufficiency and the secondary sex characters, body hair distribution and libido were normal. The karyotype was normal in all three siblings. The heredity was considered to be probably autosomal recessive. Since, therefore, a number of independent organs were affected, the syndrome has been assumed to be caused by a penetrating metabolic defect, the nature of which is unknown.

This publication has 0 references indexed in Scilit: