A Pedigree of Epicanthus and Ptosis

Abstract

(1) Introductory. The name epicanthus was first applied by von Ammon (Bibl. No. l), in 1831, t o a condition in which in the region about the root of the nose there is an excess of skin extending to the inner canthus, so that crescentic folds of it overlap the inner canthus and part of the palpebral fissure. Von Ammon (Bibl. No. 2) differentiated three kinds of epicanthus.1. Epicanthus supraciliaris bilateralis, which originates in the eyebrows and extends downwards towards the tear sac or further towards the nostrils without reaching them however.2. Epicanthus palpebralis, almost always the largest and broadest form of epicanthus, arises in the skin of the upper lid above the tarsal fold and extends to the lower margin of the orbit where it ends in the cutis. It is seldom unilateral.3. Epicanthus tarsalis, which originates always in the tarsal fold of the upper lid and loses itself in the skin close to the inner canthus.He also refers to the small tarsal epicanthus, so characteristic of some races of man. A more modern description of epicanthus is that given by Whitnall (Bibl. No. 3), who says it is formed by the skin alone of the medial part of the orbital region of the upper lid, and curves downwards, covering the medial canthus and joining the naso-jugal furrow" of the lower lid.The fold of skin forming an epicanthus is continuous with the skin at the root of the nose and by pinching up the skin of the nose an epicanthus can be diminished or made to disappear. The lachrymal puncta and caruncle and part of the lids may be hidden by the fold. When an epicanthus extends far over towards the cornea an appearance of internal strabismus is produced.Epicanthus is generally bilateral. It is frequently associated with ptosis and sometimes with paresis of special eye muscles, especially the superior rectus and external rectus, so that strabismus occurs and defective movement of the eye, especially in an upward direction. The defect of upward movement in many cases is not congenital, but is the result of disuse as a consequence of the ptosis. I n about one half of all cases of mongoloid idiocy epicanthus is present (Bibl. Hered. No. X, Bruckner). I n infants minor degrees of epicanthus are not uncommont which disappear as the face and nose develop (Bibl. No. 4). I n all races epicanthus is present in foetal life (Bibl. No. 5). Von Hippel (Bibl. No. 6) says that the occurrence in the Mongolian$ of a fold similar to * According to Whitnall, a "naso-jugal" fold runs downwards and laterally from the medial commissure and corresponds to a fascia1 interstice fixed to the bone between the orbicularis oculi and angular head of the quadratus labii superioris muscles. 2.6 $ Martin (Zoc. cit. S. 425-6) having remarked that epicanthus is similar to the Plim marginalis of the mongoloids, says that the plica marginalis of mongoloids and European children must not be attributed in these caaea to a superfluity of skin due to the flat nose formation, since many races have a flat nasal bridge but no trace of such a fold. It is perhaps

The Ocular Function and Motility in Congenital Blefarophimosis

“…In the remaining 11 cases the disease was found among one of the ancestors and in all 11 cases the trait came from the father. This autosomally dominant character showing male preponderance has been demonstrated by others (7,8,14,16,17,19,29,30). In a previous paper by the author (8) two families, members of which are also included in this series (No.…”

“…proportionate dwarfism or mongolism (10,24,30) combined with congenital cardiopathy (10,24) or as a part of Waardenburg or van den Bosch syndromes This paper deals only with the two first mentioned types. T h e clinical characteristics, which has been pointed out by Waardenburg (30) and others (5, 7 , 8,14,19,29) are presented and described in figure 1 and 2. Besides these development al malformations however, some functional defects of the eye and its adnexa are associated with the complicated type of this syndrome and based on a study of the clinical pattern and function of the eyes it is the aim of this paper to point out the relation between the visual function, the ocular motility and ptosis in congenital blefarophimosis.…”

“…In all the mentioned 4 cases and the other 7 the trait reveals a dominant characteristic with male transmission passing directly from affected person to affected person without any skips or breaks in the continuity. It has been demonstrated (29) that the ratio of affected to non-affected is very high and that the father transmits the character 6 times as often as the mother (16,19,29,30). In all cases the malformation seems to be more severe in the offspring than in the ancestor and further the number of affected siblings seems to increase from generation to generation (7,8,10,14,22,29).…”

Eye Symptoms in Mongolism

“…Usher (1925) found this sign in half the cases, Brushfield (1924) in 40 per cent., Ormond (1912) in 26 per cent. One of the causes of the difference is the varying nomenclature.…”

Dominantly inherited ptosis, strabismus and ectopic pupils

“…Dominantly inherited ptosis, both alone and in combination with other defects, has been well described in many families (Usher 1925, Duke-Elder 1964. Ptosis is often associated with varying degrees of weakness of the extraocular muscles which may result in strabismus.…”