Denouement and Discussion
Major manifestations are characteristic facial appearance, mental retardation, and hypoplasia or absence of the nails of the fifth fingers and toes. The facial appearance is coarse with bushy eyebrows, broad nasal bridge, thick lips, broad nose, and synophrys. Mild microcephaly and sparse scalp hair may be present.The nails of the fifth fingers and toes are frequently absent or hypoplastic and the other toenails may be similarly involved. There may also be an absence of the distal phalanx of the fifth finger or toe, clinodactyly, a small or absent patella, coxa valgus, dislocation of the radial head, and lax joints.The degree of mental retardation varies but may be quite severe. Feeding problems and frequent respiratory infections occur during the newborn period. Other abnormalities include growth deficiency and hirsuitism.Roentgenograms demonstrate the aforementioned skeletal abnormalities.
At the present time, the mode of inheritance
Gellis SS, Feingold M, Camarasa F, Gonzalez A, Garcia-Tornel S. Picture of the Month. Am J Dis Child. 1978;132(12):1213-1214. doi:10.1001/archpedi.1978.02120370065016