Characteristic skeletal lesions are a cardinal feature of the autosomal dominant condition,
neurofibromatosis 1 (NF1). The most frequently involved skeletal sites are the sphenoid …

The phakomatoses are a heterogeneous group of disorders primarily involving structures
derived from the embryologic neuroectoderm. However, they commonly exhibit associated …

BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in
neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully …

Neurofibromas are the hallmark of neurofibromatosis type 1 (NF1). Interestingly, generalised
and localised interference or dysfunction of bone is also a key element of the NF1 …

Van der Hoeve categorized tuberous sclerosis (TS) and neurofibromatosis (NF) I55, 156 and
subsequently von Hippel-Lindau (vHL) 157 and Sturge-Weber syndromes (SW) 21 as …

We describe a dramatic case of an identical twin presenting at birth with unilateral
congenital glaucoma. Because of the suspicion of neurofibromatosis 1 a magnetic …

Thirty-five patients with 37 peripheral nerve sheath tumors (NST)(16 schwannomas, 11
neurofibromas, 5 plexiform and 1 diffuse neurofibroma, and 4 malignant NST) were studied …

Neurofibromatosis is a genetic disorder resulting in the formation of a variety of hamartomas
and benign and malignant tumors and of several other clinical manifestations. In 1987, the …

Phakomatoses implies a congenital der-matologic lesion; the Greek word phakos means
birth mark, spot, mole, or freckle.','Van der Hoeve categorized tuberous sclerosis (TS) …

We report two patients with abnormal development of the lesser wing of the sphenoid bone,
globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1 …