Hereditary branchial arch defects in a Turkish family.

Abstract

Sir, We would like to report a family of Turkish origin which has shown as yet unreported malformations of the neck in members of three generations. According to the literature [2-5,7-9] a classification of this sequence has not yet been made. It is therefore an entity different from other branchial arch defect syndromes. Malformations in the head and neck regions are consequences of impaired embryonic development of the branchial arches. Normally, small hillocks appear at the posterior ends of the first and second branchial arches around the first branchial cleft which later fuse to form the auricle. During the fifth embryonic week the hyoid arch overgrows the third and fourth branchial arches, thus creating an ectoderm-lined pouch, the cervical sinus. Finally, the second and sixth branchial clefts and the cervical sinus are gradually obliterated to make the smooth contour of the neck. Most malformations in the neck region are connected with these events in early embryonic life [1,6]. Our patient, Arif D. (Fig. la ) was born on July 21, 1982 after an uneventful pregnancy and delivery. Birth weight, body length and head circumference were within normal range. In the neonatal period the following signs were noted: symmetrical preauricular pits (c,d), retroauricular additional rudimentary auricles (c-f), a blindly ending coccygeal groove, microstomia (a) and papillomata of the hypopharynx (b). A papillomavirus HPV-11 was isolated from biopsies of the papillomata using the method of nucleic acid crossing (We thank Dr. H.