Abstract
We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, 'X-linked amelia' is proposed.
Original language | English |
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Pages (from-to) | 569-572 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 37 |
Issue number | 4 |
DOIs | |
State | Published - 1990 |
Externally published | Yes |
Keywords
- Roberts syndrome
- SC phocomelia
- X-linked inheritance
- autosomal recessive inheritance
- tetra-amelia
ASJC Scopus subject areas
- Genetics(clinical)