Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia)

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia

“…[3][4][5] No ocular examination was performed in previous reported cases, except one case in which ophthalmologic visit and visual evoked potential were within normal range. 4 We reported the 17-year-old case with metaphyseal acroscyphodysplasia with the presence of optic disc coloboma to emphasizing the possible ocular involvment in this skeletal disorder. Optic disc coloboma is a cavitary optic disc anomaly which occurs as a result of an embryogenetic defect in fetal closure fissure and may be associated with multiple congenital anomalies due to an alteration in the development of the fetus during the sixth week of gestation.…”

“…1 In 1991 the term metaphyseal acroscyphodysplasia was first used to describe this unusual form of metaphyseal chondrodysplasia characterized by cup-shaped metaphyseal deformities of the upper and lower limbs bones embedded in cone-shaped deformed epiphyses and central epiphyseo-metaphyseal fusion. 4 Advanced bone age, short stature, and craniofacial abnormalities are often reported. [3][4][5] No ocular examination was performed in previous reported cases, except one case in which ophthalmologic visit and visual evoked potential were within normal range.…”

“…4 Advanced bone age, short stature, and craniofacial abnormalities are often reported. [3][4][5] No ocular examination was performed in previous reported cases, except one case in which ophthalmologic visit and visual evoked potential were within normal range. 4 We reported the 17-year-old case with metaphyseal acroscyphodysplasia with the presence of optic disc coloboma to emphasizing the possible ocular involvment in this skeletal disorder.…”