A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema
E Gumus - Clinical Dysmorphology, 2018 - journals.lww.com
Case report An 11-year-old girl was examined in the pediatrics outpatient clinic because of
worsening visual problems and cataract. After the initial evaluation, she was referred to the
dermatology clinic for dry skin, brittle hair, and lymphedema, and to the Clinical Genetics
Department because of her dysmorphic features. On dysmorphology evaluation, a number
of distinctive findings were noted including brittle hair, hypoplasic alae nasi, prominent
columella, strabismus, bilateral epicanthus, microphthalmia, bilateral fourth and fifth fingers …
worsening visual problems and cataract. After the initial evaluation, she was referred to the
dermatology clinic for dry skin, brittle hair, and lymphedema, and to the Clinical Genetics
Department because of her dysmorphic features. On dysmorphology evaluation, a number
of distinctive findings were noted including brittle hair, hypoplasic alae nasi, prominent
columella, strabismus, bilateral epicanthus, microphthalmia, bilateral fourth and fifth fingers …
