Microcornée associée à une hydrophtalmie et à d'autres anomalies héréditaires
- 1 May 1955
- journal article
- research article
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 4 (2) , 217-229
- https://doi.org/10.1017/s1120962300020825
Abstract
SUMMARY: In a patient the authors observed the following association of anomalies: bilateral hydrophthalmos with microcornea pseudo-plana, a thick-set somatic pattern, a small lower yaw, arterial hypertension, diabetes, disseminated intracranial calcifications, electro-encephalographic disturbances and neurological pseudo-extrapyramidal lesion.His brother shows the following association of anomalies: unilateral hydraphthalmos, a thick-set somatic pattern, a small lower jaw, arterial hypertension, diabetes, digitiform impressions on the RX of the skull and neurological pseudo-extrapyramidal lesions.The mother and grandmother of these two patients both showed a trembling of head and limbs, even as diabetes; by this means a dominant and polyphenic hereditary transmission must be accepted.Keywords
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