Roberts syndrome or "X-linked amelia"?
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.
Gershoni-Baruch
R
R
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Drugan
A
A
Bronshtein
M
M
Zimmer
E Z
EZ
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome