Robin sequence with facial and digital anomalies in two half-brothers by the same mother.
Two half-brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half-brothers by the same unaffected mother suggests X-linked recessive inheritance.
Chitayat
D
D
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Meunier
C M
CM
Hodgkinson
K A
KA
Azouz
M E
ME
D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism / Q000235:genetics; D010855:Pierre Robin Syndrome / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome