Hyperplasia Interocularis Cum Dystopia Lateroversa Canthi Medialis, Blepharophimosis, Dyschromia Iridocutanea Et Dysplasia Auditiva

Waardenburg, P. J.

doi:10.1111/j.1755-3768.1957.tb07694.x

Cited by 9 publications

(5 citation statements)

References 3 publications

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“…lV,17 (aged 29) was normal (interocular measures: 32, 63 and 90 mm) and had six unaffected children (V, [12][13][14][15][16][17].…”

Section: Figmentioning

confidence: 99%

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confidence: 99%

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Waardenburg's Syndrome in Father and Daughter

Thorkilgaard

1962

Acta Ophthalmologica

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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.

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“…lV,17 (aged 29) was normal (interocular measures: 32, 63 and 90 mm) and had six unaffected children (V, [12][13][14][15][16][17].…”

Section: Figmentioning

confidence: 99%

“…

…”

mentioning

confidence: 99%

Waardenburg's Syndrome in Father and Daughter

Thorkilgaard

1962

Acta Ophthalmologica

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“…The triad white coat, deafness and blue coloration of the irisunilateral or bilateralis also found among dogs and cats (Fransois 1961, Waardenburg 1957.…”

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confidence: 94%

“…Cases of the syndrome have also been shown among negroes in the form of blue eyes combined with white hairlock and deafness and dumbness (Waardenburg 1957).…”

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Waardenburg's Syndrome

Aasved

1962

Acta Ophthalmologica

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Historical background and evidence for dominant inheritance of the Klein‐Waardenburg syndrome (type III)

Klein

Opitz²

1983

Am. J. Med. Genet.

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The story of the Klein‐Waardenburg syndrome begins with the presentation before the Swiss Society of Genetics in Geneva in August 1947 of a 10‐year‐old girl, who showed, in addition to deafmutism, partial albinism of the hair and over the whole body, dystopia canthorum, blue hypoplastic irides, broad and prominent nasal root, absence of the frontonasal angle, and blepharophimosis. Waardenburg, impressed by the complex clinical picture of our proposita whom he saw in Geneva in 1948, subsequently undertook a systematic investigation in several Dutch institutions for the deaf. He was able to confirm from his study that several manifestations of our patient, principally the palpebro‐irido‐auditory complex, represented a well‐defined syndrome transmitted as a dominant trait with variable penetrance and expressivity. Since arthromyodysplasia did not figure among the clinical signs of his patients, Waardenburg suggested at first the possibility of either a homozygous state of the same mutation or the effect of a different allele as the cause of the accompanying gross skeletal and muscular defects. However, later on he completely questioned the nosologic placement of our case within the framework of his syndrome, having never encountered such extensive bone anomalies in more than one hundred observations. Meanwhile four other cases with similar hypoplastic upper limb anomalies have been recorded and show an astonishing degree of resemblance to our original proposita with regard to specific bone alterations and their location. However, until recently there were still no observations concerning the inheritance of this complex syndrome. The follow‐up examination of a French family where the father manifested the complete Klein‐Waardenburg syndrome including muscular and skeletal defects of the upper limbs, and his 12‐year‐old son who had apparently a typical Waardenburg syndrome (but with Sprengel deformity), enabled for the first time the postulation of a common genetic basis for both types with an autosomal‐dominant inheritance of incomplete penetrance and variable expressivity. Further investigations are however needed before this type of inheritance can be considered as firmly established for the Klein‐Waardenburg syndrome.

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Hyperplasia Interocularis Cum Dystopia Lateroversa Canthi Medialis, Blepharophimosis, Dyschromia Iridocutanea Et Dysplasia Auditiva

Cited by 9 publications

References 3 publications

Waardenburg's Syndrome in Father and Daughter

Waardenburg's Syndrome in Father and Daughter

Waardenburg's Syndrome

Historical background and evidence for dominant inheritance of the Klein‐Waardenburg syndrome (type III)

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