To the Editor.—Coffin and Siris recently described the syndrome of mental retardation with absent fifth fingernail and terminal phalanx.1 We wish to add one more case to their observations by reporting identical features in a girl, whom, in spite of the mental retardation and the coarse facial characteristics, we had included in an article on the nail-patella syndrome.2
The patient was born at term, May 15, 1968, of normal healthy parents 33 and 40 years old. She is the second of two siblings.
The first child, a boy, died soon after birth of dysmaturity complications and weighed 4.8 kg (10.6 lb) at birth. There is no family history of joint diseases, mental retardation, hemangiomas, or consanguinity.
The pregnancy and delivery were unremarkable. The baby weighed 3.5 kg (7.7 lb) and appeared abnormal at birth, with absence of fingernails of the thumb and big toe and the fifth
BARTSOCAS CS, TSIANTOS AK. MENTAL RETARDATION WITH ABSENT FIFTH FINGERNAIL AND TERMINAL PHALANX. Am J Dis Child. 1970;120(5):493-494. doi:10.1001/archpedi.1970.02100100153030