Buried among the vast literature on Robin's syndrome (cleft palate, micrognathia, and glossoptosis) would appear to be a distinct symptom-complex that consists of cleft palate, talipes equinovarus, atrial septal defect, and persistence of the left superior vena cava. The syndrome appears to be inherited as an X-linked recessive trait.
We wish to report such a family since genetic counseling for this syndrome is quite different from that in the usual nonheritable type of Robin's syndrome.
Report of a Case
The patient (Fig 1, IV-2), a 3-month-old white male infant (Fig 2), born on Dec 21, 1968, was referred to the Oral Pathology Division of the School of Dentistry, University of Minnesota for examination and possible genetic counseling of the parents. The mother (III-2) was one of ten children (eight girls and two boys). One of her brothers (III-5) died soon after birth. He was stated to have had club feet
Gorlin RJ, Červenka J, Anderson RC, Sauk JJ, Bevis WD. Robin's Syndrome: A Probably X-Linked Recessive Subvariety Exhibiting Persistence of Left Superior Vena Cava and Atrial Septal Defect. Am J Dis Child. 1970;119(2):176–178. doi:10.1001/archpedi.1970.02100050178020
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: