Waardenburg's Syndrome in Father and Daughter

Abstract

In 1950-51, Waardenburg (15,16,17) showed that some well-known developmental anomalies in the interocular region associated with deafness and certain pigmentary defects constitute a syndrome which is inherited as a dominant character. The syndrome consists of the following features: lateroverse dystopia of the medial canthi (estimated penetrance, 99 O/O), prominent nose root (78 O / o ) , hyperblasia of the medial part of the eyebrows with frequent overgrowth (synophrys) (45 O/O), heterochromia iridum (25 O/O), unilateral deafness or deafmutism (20 U/O), a white hair lock (17 O/O) and, in some cases, vitiligo-like pigmentary defects of the skin. Premature greying of the scalp hair is, according to Waardenburg, equivalent to the white hair lock.After having shown that the characteristic features of the syndrome are normal at the beginning of the third month of embryonic life, Waardenburg expressed the view that the syndrome owes its features to a fixation of the foetal characters through an arrest of normal development (14).A number of single cases have been published, including a sporadic one by the Danish investigator Brtendstrup (3) in 1941. An interesting divergent case with extensive vitiligo, cranial deformities and multiple dysplasia of the upper extremities was presented by Klein ( 8 ) in 1950. Keizer (7) and Wildervanck (13) added several Dutch families to the nine considered by Waardenburg. Other families have been described from Switzerland (2), France (lo), England (9, l l ) , Denmark (Arnvig (l)), Spain (6) and the U. S. A., where Di George et al. ( 4 ) presented the first cases among Negroes.These are of particular interest, since some of the patients had double-sided blue eyes, i. e. bilateral hypochromia of the irides.In histological studies of affected internal ears, Fisch ( 5 ) revealed the absence of the organ of Corti and of the greater part of the ganglion cells of the spiral ' $) Received October 12th 1962.

Case of Waardenburg Shah syndrome in a family with review of literature

“…In the antecedent 20 years, a myriad of studies (Arias, 1971; Hageman and Delleman, 1977) have apportioned Waardenburg syndrome (WS) into several forms, based on whether dystopia canthorum is present (type I) or absent (type II), and whether upper limb defects present (type III, Klein-Waardenburg syndrome) (Klein, 1983) or associated with Hirschsprung disease (type IV, Waardenburg Shah (1981). Waardenburg syndrome types I, II, and III demonstrate the autosomal dominant type of inheritance with an imperative complete penetrance and variable expression (Lalwani, 1996; Thorkilgaard, 1962). Dystopia canthorum which is defined as a prominent broad nasal root with increased intercanthal distance is the most penetrated feature of WS and is found in 41.2%–99% of the reported cases (Choi et al., 2005).…”

Degeneration of saccular hair cells caused by MITF gene mutation

“…Besides, Hageman suggested that vestibular dysfunction should not be considered as an essential symptom in WS [7]. Thorkilgaard et al also reported normal vestibular functions in WS patients [19]. Therefore it is still unclear whether the abnormal vestibular function should be considered as one of the characteristic features in WS patients.…”

Η Συνδρομη Waardenburg Εν Ελλαδι. Κλινικαι Παρατηρησεις

“…Αϊ δημοσιεύσεις των ήγειραν παγκόσμιον ενδιαφέ ρον διά τήν ελάχιστα μέχρι τότε γνωστήν συνδρομήν. Ήκολούθησαν πολλαί ανακοινώσεις περιπτώσεων της συνδρομής επί ατόμων διαφόρων εθνικοτήτων, δπως Βρετανών 31,73 , Βέλγων 25 , 'Ισραηλιτών , 'Ινδών °' 34 , εγχρώμων του 'Ακρωτηρίου (Cape Colored) 24 ' 60 , Δανών 86 , φυλής Bantu 80 , Ισπανών 91 , Νορβηγών 1 , Ζουλού 14 , 'Ιαπώνων 69,84 , Καναδών 74 , Μαορί 43 , Γερμανών 2 , Νέγρων 13,35,36,41,57,75 , Γάλλων 12 , 'Ολλανδών ' , 'Αμερικανών 29,77 , Γιουγκοσλάβων 66 , 'Ιταλών 32,89 ,…”

“…Ή μία ϊρις δύναται νά είναι έξ ολοκλήρου κυανή καί ή άλλη εξ ολοκλήρου κεχρωσμένη, π.χ. καστανή (ολική ή πλήρης έτεροχρωμία) 93 , ή άμφότεραι δύναται νά έχουν έξ ολοκλήρου χαρακτηριστικόν ώχροκύανον χρώμα (ίσοϋποχρωμία) 26 , ή τις θεωρείται σήμερον επίσης ως μέρος της συνδρομής 23 ' 78 ' 86 . Ουχί άσυνήθως, ή κυανή ϊρις παρουσιάζει ποικίλου μεγέθους κεχρωσμένα τμήματα 26,93 (μερική έτεροχρωμία ή δίχρωμος ϊρις).…”

“…Έκτος της δυστοπίας τών έσω κανθών, εις τήν οποίαν κυρίως άπεδόθη ύπό τοϋ Waardenburg ή χαρακτηριστική έμφάνισις του προσώπου, ή κά τω γνάθος είναι ογκώδης 31 , μέ άσυνήθως ευρείας καί άνυψωμένας γωνίας 86 , τό σχήμα του προσώπου είναι μάλλον τετράγωνον 26 καί τό σχή μα της ρινός είναι χαρακτηριστικόν 26 . Ή ρίς φαίνεται λεπτή, λόγω ήλαττωμένης αναπτύξεως τών πτερυγίων καί ή κορυφή της είναι άποστρογγυλωμένη καί έστραμμένη ελαφρώς προς τά άνω, οΰτως ώστε ή κιονίς είναι συνήθως ευχερώς ορατή εις φωτογραφίας 26 .…”