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Images in Clinical Practice Indian Pediatrics 2001; 38: 1194 |
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Ethmocephaly |
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A term small for gestational age male was born normally to a 22 years G2P1L1A0 mother, with a history of first degree consanguinity. Previous sibling, a girl delivered normally at term, without any abnormality is of two years, developing normally. Clinically examination of the propositus - neonate revealed dysmorphic facial features ocular hypotelorism with medical fusion of eyes, a rudimentary nasal structure - the proboscis located between the eyes in the midline, poorly formed philtrum but no intraoral abnormalities like cleft palate. The neonate also had an imperforate anus (Fig. 1). He weighed 2185 grams, with a crown heel length of 45 cm and occipitofrontal circumference of 26 cm. Supportive care was provided. The neonate survived for half an hour after birth. A diagnosis of ethmocephaly with imperforate anus was made. This is a very rare entity (1/15000 live births) with an occurrence of 60 times in abortuses and thus eliminated prenatally. Embryologically it results from an abnormality of CNS, specifically of prosencephalic cleavage, with timing of the onset of these disorders around 5th week (<35 days) gestation. The cardinal abnormality of the condition is an absence of the olfactory bulbs and tracts and failure of cleavage of the forebrain. The brain is usually small. There are fewer than normal gyri which are broad and often flat. There is a large monoventricle, which is often associated with agenesis of the corpus callosum. There are often other midline disturbances with midfacial hypoplasia.
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