Erbleiden des Nervensystems beim Menschen

Boeters, Heinz

doi:10.1007/978-3-642-92515-3_2

Cited by 4 publications

(2 citation statements)

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“…There is another possibility of transmission. Periodic paralysis in this family might be a sporadic occurrence, or the condition could be an autosomal recessive inheritance with asymptomatic parents (Boeters, 1939). However, this form of transmission is rare.…”

Section: Discussionmentioning

confidence: 93%

“…The finding of another member, her younger brother (Case 5) with a similar condition was in favour of the periodic paralysis being of a familial type. The transmission of familial hypokalemic periodic paralysis may be autosomal dominant, autosomal recessive or even sporadic, but the majority of cases were transmitted as a simple autosomal dominant (Boeters 1939;Tyler & Stephens, 1951).…”

Section: Discussionmentioning

confidence: 99%

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Waardenburg’s syndrome and familial periodic paralysis

Tay

1971

Postgraduate Medical Journal

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Summary Nine members in three generations of a Chinese family were found to have Waardenburg’s syndrome comprising, mainly, lateral displacement of the inner canthi, broadening of the nasal root and hypertrichosis of the eyebrows. Other minor features were also found. Two patients had in addition, hypokalemic periodic paralysis of the familial type, one had prominent frontal bossing and another, bilateral cleft lips and palate. These associated anomalies have not been previously documented and the presence of two autosomal dominant genetic defects in this family is of particular interest.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%