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oai:repisalud.isciii.es:20.500.12105/140872025-06-03T13:10:03Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5716

00925njm 22002777a 4500 dc Arroyo-Carrera, I author García-García, MJ author Lozano-Rodríguez, JA author Polo-Antúnez, A author Zunzunegui, JL author Álvarez, T author Martinez-Fernandez, Maria Luisa author Bermejo-Sanchez, Eva author 2011-12 In 1935, Sorsby [Br J Ophthalmol. 1935; 19:65-90] described a family with several affected individuals presenting with bilateral coloboma of macula, type B brachydactyly affecting hands and feet, and unilateral renal agenesis in one of its members. We describe a newborn girl presenting with the same pattern of congenital anomalies as the patients of the family originally described by Sorsby (OMIM 120400). However, the current case has as additional findings a single umbilical artery, and an anomaly of pulmonary vascularization consisting in: a ring in the lower right lobar artery and sequestration of the lower right lung lobe. Therefore, despite that our patient adds new clinical variability, it is not possible to disregard the diagnosis of Sorsby syndrome, because such clinical variability was also observed in the affected members of the original family described by Sorsby and some individuals of the next generations of the same family, according to the report by Thompson and Baraitser [J Med Genet. 1988; 25:313-321]. Based on the observed genealogy pattern of affected members in the only family published, it is considered that this syndrome is due to an autosomal dominant gene. The baby described here, is the first case in the family. She had a normal karyotype (~850 bands) and the subtelomeric Multi-FISH was also normal. Her father was 39 years old and, therefore, an age-related new mutation could be evaluated. The frequency of Sorsby syndrome is unknown, since only the original family has been published so far. However, as the case described here is part of the ECEMC Registry, we can estimate that its frequency is at least 1:2,750,000 newborn infants. We consider that, even in the “molecular era”, it remains important to clinically describe those extremely rare syndromes, in order to define their characteristics and clinical expressions. These aspects are essential to define the prognosis, clinical management and information to the family, and can help also to determine the gene(s) or pathogenetic pathways involved in their origin. Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 1): 27-32 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14087 Síndrome de Sorsby Sorsby syndrome Síndrome de Sorsby: descripción de un caso que representa la segunda familia descrita