Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.

Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to b...

A child with axillary freckling and café au lait spots.

Orbital neurilemmoma with café-au-lait pigmentation of the skin.

Examination.-The left eye was normal with visual acuity 6/12. The right eye showed proptosis 20 mm. (left 15 mm.), and deviated outwards with limitation of ocular movements inwards. The fundus showed optic atrophy and the visual acuity was hand movements. A firm mass was felt in the inner side of the orbit extending backwards. Surgery.-Through a medial fomix conjunctival incision the tumour was...

McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the enti...

Neonatal progeroid syndrome (Weidman Rautenstrauch syndrome): A case report from Jammu &Kashmir, India.

A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS)  presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.