engleski

An apparently new syndrome of sensorineural deafness, distinctive facial features, exomphalos, hypoplasia of the corpus callosum, seizures and mental retardation

Genetic syndromes often have variable expression both regarding the presence or absence and the severity of specific malformations/traits. When the specific diagnostic test is lacking, it is often difficult to decide if a patient presents an atypical case of an already described rare syndrome or a distinct entity. We report on a three and a half-year old boy with a multiple congenital anomaly- mental retardation syndrome characterised by profound sensorineural hearing loss, severe hypermetropia, exomphalos, bilateral inguinal hernia, hypoplasia of the corpus callosum, seizures and developmental delay. He had dysmorphic facial features, including wide forehead, high arched eyebrows, telecanthus, down-slanting palpebral fissures, high and prominent nasal bridge and submucosal cleft. High resolution karyotype and multicolor subtelomeric chromosome screening by fluorescent in situ hybridisation yield normal results. The patient shows overlap with the two rare autosomal recessive disorders - Malpuech syndrome characterised by growth retardation, hypertelorism, facial clefting, hearing impairment, inguinal hernia and urogenital abnormalities and the syndrome descirbed by Donnai and Barrow (1993) consisting of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia and sensorineural deafness. However, the pattern of anomalies in our patient does not support convincingly any of the given diagnostic possibilities, which lead us to believe that this constellation of anomalies represents a distinct clinical entity.

sensorineural deafness; omphalocele; corpus callosum agenesis; mental retardation

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