A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag) scrotum. There are also hand anomalies, and the cornea is usually enlarged. Males fully affected; female carriers sometimes exhibit phenotypical manifestations. The affected child has generally good health and developmental landmarks are within normal limits. In some cases, moderately impaired intelligence or early delay in motor performance, or both. Slow maturation from 3 years on.
- D. Aarskog:
A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
Journal of Pediatrics, St. Louis, 1970; 77: 856-861.
- C. I. Scott Jr.
Unusual facies, joint hypermobility, genital anomaly and short stature. A new dysmorphic syndrome.
In: D. Bergsma, V. A. McKusick,, B. W. Konigsmark (eds): The Clinical Delineation of Birth Defects. Vol 10, The Endocrine System, Baltimore 1971, pp 240-246.
Or is it in: Birth Defects Original Article Series, New York, 1971, 7: 260-246.