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EP09.06: Sagging renal artery clue to prenatal diagnosis of horseshoe kidney

The Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factors operating in utero from about the 35th–38th day after conception, and involving midline structure of the head including the cranial bones, the maxilla and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. The SMMCI tooth may possibly occur as an isolated trait or in association with many other midline developmental anomalies. It is estimated to occur in 1:50000 live births. There is a wide variability in the phenotypic spectrum. SMMCI is considered one of the most minimal expressions of the holoprosencephaly spectrum. Mutation in the Sonic Hedgehog Homolog (SHH) gene may be associated with SSMMCI, but recent studies suggests the existence of several other candidate genes. We describe the case of a 23 year old patient with SMMCI. The prenatal findings were corpus callosum agenesis, polihidramnios and facial dysmorphisms. At 10 months old the patient presented a solitary median maxillary incisor. The fetal stored ultrasonographic imagings were reviewed postnatally and the solitary median maxillary incisor was observed (figures 1, 2). The patient has developed a central diabetes insipidus and the genetic study shows a microform of holoprosencephaly. The patient is 20 months old and has microcephaly, hypotony, chronic rhinitis and bronchospasm, epilepsy, dysphagia, hypotelorism, nasal airway obstruction with unilateral choanal atresia, attention deficit, and intellectual disability.