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Jornal de Pediatria

Print version ISSN 0021-7557

Abstract

CARAKUSHANSKY, Gerson; PAIVA, Isaías S.; EVELYN, Kahn  and  RIBEIRO, Márcia G.. Recessive type of Freeman-Sheldon syndrome: report of two affected siblings. J. Pediatr. (Rio J.) [online]. 2001, vol.77, n.5, pp. 425-430. ISSN 0021-7557.  http://dx.doi.org/10.1590/S0021-75572001000500015.

OBJECTIVE: to share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: the authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblings born to healthy parents. These two cases present significant peculiarities that contradict the findings of the medical literature, obtained through bibliographic research about the subject. The cases described here corroborate the existence of a recessive type of the Freeman-Sheldon syndrome. In spite of the fact that some authors suggest a high frequency of severe neurological impairment in this type of syndrome, the two cases we analyzed did not show any apparent manifestation of such sequelae. COMMENTS: the Freeman-Sheldon syndrome is heterogeneous not only in its clinical presentation but also in its genetic transmission. It is very important to be informed about the existence of more than one form of hereditary transmission of this syndrome, since genetic counseling should take into consideration all possibilities. In these cases, the use of empiric risks of recurrence would be justified.

Keywords : Freeman-Sheldon syndrome; cranio-carpo-tarsal dysplasia; arthrogryposis; genetic counseling.

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