Letter to the editors 35 Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs Vera Lu ´ cia Gil da Silva Lopes a , Maria Leine Guion-Almeida b and Silvyo David Arau ´ jo Giffoni a We describe a 15-month-old girl born to a normal family and with non-consanguineous parents presenting with an unusual pattern of multiple congenital anomalies, including frontonasal dysplasia, neuronal migration error, lymphoe- dema of upper and lower limbs, and mild neuropsycho- motor delay. Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology. Clin Dysmorphol 13:35–37  c 2004 Lippincott Williams & Wilkins. Clinical Dysmorphology 2004, 13:35–37 Keywords: frontonasal dysplasia, lymphoedema, neuronal migration error a Departamento de Gene ´ tica Me ´ dica, Faculdade de Cie ˆ ncias Me ´ dicas, Universidade Estadual de Campinas, Campinas, SP, Brasil and b Servic ¸o de Gene ´ tica Clı ´nica, Hospital de Reabilitac ¸a ˜o de Anomalias Craniofaciais, USP, Bauru, SP, Brasil. Correspondence and requests for reprints to Vera Lu ´ cia Gil da Silva Lopes, Depto de Gene ´ tica Me ´dica/FCM/UNICAMP, Caixa Postal 6111, CEP 13081-970, Campinas – Sa ˜o Paulo - SP – Brasil. Fax: + 55 19 3788 8909; e-mail: vlopes@fcm.unicamp.br Received 29 November 2002 Accepted 9 August 2003 Case report The proband, a white female (Figure 1), was referred to us for multiple congenital anomalies. She was born to normal and non-consanguineous parents (26-year-old father and 24-year-old mother), and has a normal brother. Family history was unremarkable. Pregnancy and delivery were uncomplicated; birthweight was 3600 g (P75) and Apgar scores were not recorded. An extension of the anterior fontanelle was noted, which represented a frontal bony defect. Clinical evaluation, at 15 months, showed weight 10 kg (P50), length 80 cm (P50) and OFC 46 cm (P50 < P < P98). Dysmorphic signs included dolichoce- phaly, a prominent forehead with a medial depression corresponding to an extended anterior fontanelle (3  7 cm), extensive frontal and nasal superficial capillary haemangiomas, low-set and malformed ears, ocular hypertelorism, down-slanting palpebral fissures, a broad nasal bridge, micrognathia, a high and narrow palate and mildly narrow shoulders. There was mild asymmetry of the lower limbs, and lymphoedema and skin dimples on the hands (Figure 2) and feet. She had apparently normal neuropsychomotor development and had febrile seizures from 17 months. At the age of 6 years, her mother mentioned that she still had seizures; mental develop- ment was mildly delayed especially speech. Ophthalmologic evaluation showed a normal left eye and a salt-and-pepper retina, megalopapillae and iris syne- chiae in the right. Ocular haemangiomatosis was absent. Vision on the right side could not be exactly estimated, but the girl seemed to use this eye normally. The audiometric evaluation revealed mild hearing loss for bass sounds and moderated to acute sounds, bilaterally. On Fig. 1 The patient with face showing dysmorphic features. 0962-8827  c 2004 Lippincott Williams & Wilkins DOI: 10.1097/01.mcd.0000092960.11849.1d Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.