SUMMARY OF SELECTED CASES TABLE OF TREACHER Malar Lower Date Eminence Orbital Margin

THE first recorded cases of this comparatively rare congenital anomaly were reported by Berry (1889), but it was not until 11 years later that Collins (1900) recognized that the condition occurred as a syndrome. Further cases in Great Britain have been described by Mann and Kilner (1943) and Johnstone (1943). The clinical picture varies considerably from case to case and atypical, incomplete and unilateral forms may occur. It has been described under various names, in England as " Treacher Collins' Syndrome ", and on the continent of Europe as the " Syndrome of Franceschetti ". The original cases described by Berry (1889) comprised a mother, her brother, and her daughter, who all shewed obliquity of the palpebral fissures, colobomata of the eyelids, and defective development of the chin (micrognathia); these are now classified as abortive forms of the full syndrome. Collins (1900) and Tyrrell (1903) described in addition flattening of the cheeks due to hypoplasia of the malar bones. McMullen (1920) described a unilateral case, and Pires de Lima and Monteiro (1923) first described the fully developed syndrome. Numerous case reports followed-Isakowitz (1927), Waardenburg (1932,1934), Hermans (1936), Van Lint and Hennebert k1936), Kazanjian (1936), McEnery and Brennemann (1937), Debusmann (1940), Sanvenero-Rosselli (1940, 1948), Mann and Kilner (1943), Johnstone (1943), Franceschetti and Zwahlen (1944), Leopold, Mahoney and Price (1945), Schachter (1947), Brohm and Kluska (1947), Holm (1948), Bregeat and Naud (1949), Waardenburg (1948), Navis (1948), Straith and Lewis (1949), Labourcarie and Gayral (1949), O'Connor and Conway (1949), Halberg and Paunessa (1949), and Streiff (1950). The fully developed syndrome consists of certain associated congenital and familial deformities of the ears, malar bones, lips, chin, and lower eyelids. The general similarity in appearance of the affected patients is very striking, although the number and extent ofthe deformities (which are usually bilateral) vary considerably. The appearance is unmistakable and the face has a characteristic fish-like aspect. The main features (see Table of selected cases) are: (1) An anti-mongoloid obliquity of the palpebral fissures, sometimes associated with colobomata of the outer portion of the lids (usually the lower lids).