[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome].
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.
Boudhina
T
T
Service de Pédiatrie, Urgences et Consultations Externes, Hôpital d'Enfants, Tunis, Tunisie.
Yedes
A
A
Khiari
S
S
Ghram
N
N
Ben Becher
S
S
Makni
S
S
Ben Jemaa
M
M
Hamza
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D012871:Skin Diseases / Q000235:genetics
Syndrome familial associant: nanisme, microcéphalie, oligophrénie, épilepsie, surdité et dermatose. Un nouveau syndrome.