[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome]

Autor: T, Boudhina, A, Yedes, S, Khiari, N, Ghram, S, Ben Becher, S, Makni, M, Ben Jemaa, M, Hamza
Jazyk: francouzština
Rok vydání: 1990
Předmět:
Zdroj: Annales de pediatrie. 37(6)
ISSN: 0066-2097
Popis: We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among other family members. This syndrome is one of the many neurocutaneous syndromes and does not seem to fit any of the previously published descriptions.
Databáze: OpenAIRE