A syndrome of microphthalmia or anophthalmia, with variable abnormalities of the digits, teeth, heart and urogenital system. Long list of musculoskeletal disorders include camptodactyly and clinodactyly of fingers, duplication of the thumb, short stature, cylindrical thorax, limited extension of the hip joint, genu valga, and internally rotated knees. The patients may be mentally retarded. Inheritance is X-linked.
- W. Lenz:
Recessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen.
Zeitschrift für Kinderheilkunde, Berlin, 1955, 77: 384.
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