Abstract
The authors present 2 affected sibs, a male and a female, with unaffected parents and a sib from a small remote northern Mexican village. The syndrome includes mental deficiency, brittle hair with a decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x ray fluorescent spectroscopy.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 219-228 |
| Number of pages | 10 |
| Journal | Birth Defects: Original Article Series |
| Volume | 12 |
| Issue number | 5 |
| State | Published - Dec 1 1976 |
| Externally published | Yes |
ASJC Scopus subject areas
- Developmental Biology
- Genetics(clinical)
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Arbisser, A. I., Scott, C. I., Howell, R. R., Ong, P. S., & Cox, H. L. (1976). A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects: Original Article Series, 12(5), 219-228.