Laurence-Moon-Biedl Syndrome in Nigerian Siblings: a Four year Follow-up

Abstract

Summary: Two sisters with typical clinical features of Laurence-Moon-Biedl syndrome are described. The proband, an eight-year old girl and her sister aged three years, presented with gross, progressive obesity, mental retardation, digital anomalies and retinal dystrophy. Retinitis pigmentosa in the index patient had already reached an advanced stage causing severe restriction of the visual fields and diminished visual acuity, while in the three-year old sister, the retinal changes and visual defect were milder. Hypogonadism was not clinically obvious as both girls were in the latent prepubertal stage. The proband, up to the age of 12 years, remained at the prepubertal stage of sexual development and her gonadotrophin levels did not rise appreciably. The other sibling, a six-year old boy, and both parents, who were consanguineous, showed no clinical signs of the syndrome.