KID syndrome and pachydermatoglyphia about two observations
مقال من تأليف: Boudghene-Stambouli, O. ; Eradboudia, A. ;
ملخص: We report: - 1st case = a case of KID syndrome in a young girl born to non-consanguineous parents without any similar family history. The typical features of this dysplasia, erythrokeratoderma with dry rugous teguments, pachyderma, folds of the knees, facial erythema, peribuccal grooves, leucokeratosis, perleche, hypotrichosis of the eye lashes and eyebrows, early onset deafness and ophthalmological lesions were observed. The characteristic pachydermatoglyphia of the bands was present. A malformation of the posterior cerebral fossa -- a Dandy Walker syndrome -- was revealed at computed tomography.- 2nd case with characteristic Pachydermatoglyphia of the hands was present.
لغة:
إنجليزية