Campos MA, Sánchez PV, Díaz ÁB, Albarrán SY

Language: Spanish
References: 7
Page: 103-106
PDF size: 108.03 Kb.

ABSTRACT

Certain facial features consisting of a disproportion between the size of the skull and face with macrocephaly, microstomia, microretrognatia, lengthened filtrum with narrow nostrils and hypertelorism were described in 1938 by Freeman and Sheldon, with the name of dystrophy craniocarpotarsal. These characteristics were also observed later by Burian coining later the name of whistling face syndrome, a disorder with autosomal dominant pattern. A case of a male patient 20 days old, who was referred to Children’s Hospital Morelos, whose findings of facial and limb both above and below, were characteristic for establishing the diagnosis.

REFERENCES

1. Freeman E, Sheldon JH. Cranio-carpotarsal dystrophy: Undescribed congenital malformation. Arch Dis Child 1938; 13: 277-83.

2. Burian F. The whistling face characteristic in a compound cranio-facio-corporal syndrome. Brit J Plast Surg 1963; 16: 140-3.

3. Kousseff BG, McConnachie P, Hadro T. Autosomal recessive type of whistling face syndrome in twins. Pediatrics 1982; 69: 328-31.

4. Vergara FHJ, Román CL. Síndrome de Freeman-Sheldon, informe de cinco casos. Acta Ortop Mex 2007; 21 (6): 338-343.

5. Yamamoto S, Osuga T, Okada M, Hashimoto T, Shigematsu H, Suzuki S et al. Anesthetic management of a patient with Freeman-Sheldon syndrome. Masui 1994; 43: 1748-53.

6. Cruz M, Bosch J, Atlas de síndromes pediátricos. España: Espax 1998: 170-171.

7. Ferreira LM, Mirami E, Andrews JD. Freeman-Sheldon syndrome: surgical correction of microstomia. Br J Plast Surg 1998; 47 (3): 201-2.