Original article 85 Fuhrmann syndrome: two Brazilian cases J. Huber a , J.B. Volpon b and E.S. Ramos a We describe two unrelated boys with bilateral fibula aplasia, poly- and oligodactyly, and bowed tibiae in two non-consanguineous Brazilian families. These cases are similar to those reported by Fuhrman et al. [(1980). Skeletal Dysplasias. New York: Alan R. Liss Inc. pp. 519– 524]. Clin Dysmorphol 12:85–88 c 2003 Lippincott Williams & Wilkins. Clinical Dysmorphology 2003, 12:85–88 Keywords: Fuhrmann syndrome, fibula aplasia/hypoplasia, polydactyly, oligodactyly, bowed tibia, autosomal recessive a Department of Genetics, Medicine School of Ribeira˜o Preto, University of Sa˜o Paulo – USP, Ribeira˜o Preto, 14049-900, Brasil and b Department of Traumatology and Orthopedics, Medicine School of Ribeira˜ o Preto, University of Sa˜o Paulo – USP. Ribeira˜o Preto, 14049-900, Brasil. Correspondence and requests for reprints to Jair Huber, Departamento de Gene´ tica da Faculdade de Medicina de Ribeira˜o Preto – USP, Bloco – C, Av. Bandeirantes, 3900, 14049-900, Ribeira˜o Preto, SP – Brasil. Tel: + 55 16 602 3164; fax: + 55 16 633 0069; e-mail: jhuber@rge.fmrp.usp.br Received 10 September 2002 Accepted 5 January 2003 Introduction Fuhrmann et al. (1980, 1982) described a new skeletal syndrome in three sibs belonging to a non-consanguineous family. The major manifestations include: poly-, syn- and oligodactyly, aplasia or hypoplasia of the fibula, with hypoplasia of the pelvis and bowing of the femora, indicating possible autosomal recessive inheritance. Lipson et al. (1991) and Aynaci et al. (2001) later reported similar cases. We report two Brazilian cases with expressions very similar to those described previously, supporting the view that this entity is a distinct combination of developmental limb anomalies. Clinical report Patient 1, a boy, was seen at 8 months of age. His height was 64 cm ( < 3rd centile) and weight 6945g ( < 3rd centile). Parental consanguinity was denied. He had postaxial polydactyly of both hands. The arms and forearms were normal. The left leg was bowed with a deep skin dimple. The feet were clubbed (talipes valgus) with two toes on the right foot and three toes on the left foot. Radiographs showed a supernumerary postaxial tripha- langeal finger of both hands and fusion of the fifth and sixth left metacarpals, dislocation of the hip and bilateral aplasia of the fibulae. The left tibia was broad, shortened and bowed. The right foot had two toes with two phalanges and two metatarsals. The left foot had three metatarsals and two triphalangeal toes and one toe with two phalanges. The tarsal bones were absent in both feet (Figures 1 and 2). Fig. 1 Patient 1. (A) Note the malformed legs with a deep skin dimple on the left leg and malformed club feet with oligodactyly; (B) X-ray of the right leg showing absence of fibula; (C) X-ray of the left leg showing absence of fibula and bowed tibia; (D, E) X-ray of the right and the left foot respectively. 0962-8827 c 2003 Lippincott Williams & Wilkins DOI: 10.1097/01.mcd.0000059772.40218.96 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited. Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.