The Coffin‐Lowry Syndrome: Four New Cases In Three Families

Four Japanese boys with the Coffin-Lowry syndrome in three unrelated families were reported. Three of the four patients aged2–8 years had typical features of the syndrome including severe mental retardation, coarse facies, tapered fingers, and distal phalangeal tufting, while the remaining patient, examined at the age of seven months because his eldest brother was affected, had less characteristic features. As mentioned by many authors, clinical manifestations of the three patients had developed with age, so then the features in the youngest patient may progress in his childhood. All of the three mothers had variable features that were moderate to normal. Tapered fingers and tufting of distal phalages were the most common features among them and would be most diagnostic for the detection of affected females.