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

Boudhina, T.; Yedes, A.; Khiari, S.; Ghram, N.; Ben Becher, S.; Makni, S.; Ben Jemaa, M.; Hamza, M.

Annales de Pediatrie 37(6): 399-403

1990

ISSN/ISBN: 0066-2097
PMID: 2400194
Document Number: 357191
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.

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