Abstract
A deletion of the long arm of chromosome #4 [46, XX, del(4)(q31)] was demonstrated in a 3-month-old male with multiple congenital malformations and marked psychomotor retardation. The child, delivered by C-section at 38 weeks gestation, weighed 2,600 gm. Hypotonia and cyanosis upon crying or feeding, without demonstrable congenital heart disease, were evident from birth. Postnatal growth and development were retarded. Malformations included a small head with prominent occiput and asymmetric forehead; narrow facies; posteriorly rotated and poorly developed ears; dysplasia of the inner canthi and mongoloid slant to the palpebral fissures; cleft lip, cleft palate and micrognathia; congenital hip dysplasia; abnormal implantation of the thumbs and toes and bilateral simian creases.
Three other infants with a deletion of the long arm of #4 have been reported in the literature. Although the study of additional cases will be necessary to more completely define the phenotype, the similarity of the pattern of malformation found in our patient and in those previously reported in the literature suggests that the 4q- syndrome may constitute a clinically identifiable disorder.
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Frias, J., Nelso, R., Ra, S. et al. DELETION OF THE LONG ARM OF CHROMOSOME #4. A CLINICAILY IDENTIFIABLE SYNDROME?. Pediatr Res 11, 525 (1977). https://doi.org/10.1203/00006450-197704000-00933
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DOI: https://doi.org/10.1203/00006450-197704000-00933