Lenz Microphthalmia Syndrome
General: X-linked recessive; female carriers. 111b19b
Ocular: Microphthalmia; microcornea; ocular coloboma; colobomatous microphthalmia.
Clinical: Skeletal abnormalities of vertebral column, clavicles, and limbs; severe renal dysgenesis and hydroureters; dental anomalies; hypospadias and bilateral cryptorchidism; severe speech impairment; shortness of stature; long, cylindrical, and thin thorax; sloping shoulders; flat feet.
Antoniades K, et al. A sporadic case of Lenz microphthalmia syndrome. Ann Ophthalmol 1993; 25:342-345.
Herrmann J, Opitz JM. The Lenz microphthalmia syndrome. Birth Defects 1969; 5:138-l48.
on RA. Ocular coloboma. Surv Ophthalmol 1981; 25:223-236.
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