Earliest evidence for arthrogryposis multiplex congenita or larsen syndrome?

Abstract

A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.

Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to Chromosome 5 by linkage analysis

“…The successful isolation of key proteins and enzymes could be the basis for designing new supplemental substances that may prevent diseases such as AMC. The swine represents a particularly attractive animal model for studying the common genetic forms of human AMC because, physiologically, AMC disease in humans and pigs Arthrogryposis X-linked type V Xq23-q27 AMCX5 2 The gene in which the mutation occurred is shown in parentheses, along with its mode of inheritance (1 = dominant, 2 = recessive, 3 = unknown) are very similar. Therefore, the chromosomal region carrying positive QTL alleles of SSC5 identified in this study and heavily marked by microsatellites may provide an important road map for future studies in humans.…”

“…It is one of the most common congenital defects observed in piglets and other mammals. In humans, AMC seems to have a very old origin and is estimated to occur in one of every 3000 births (Anderson 1997;Staheli et al 1998). It is defined as permanent fixation or ankylosis of the joints and can occur in the forelimbs, hind limbs, and/or the vertebral column, which leads to various degrees of flexion or extension at birth and/or scoliosis (see Fig.…”

The Diagnosis of Art: Arthrogryposis and Ribera's The Clubfoot

“…6 A 16th century illustrated document, The Forme and Shape of a Monstrous Child, Born at Maydstone in Kent (1568), housed in the Huth Collection in the British Library, contains an anterior and posterior illustration of a newborn child with congenital deformities compatible with arthrogryposis, along with a poem and prose describing the anomalies. 7 For example, the bilateral clubfoot anomaly is described as 'the left leg…”