Congenital healed cleft lip.
Congenital "healed" cleft lip (CHCL) is an unusual anomaly including a paramedian "scar" of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and "collapsed" nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon.
Castilla
E E
EE
Departamento de Genética, Instituto Oswaldo Cruz, Fiocruz, Rio de Janeiro, Brazil.
Martínez-Frías
M L
ML
D000328:Adult; D016022:Case-Control Studies; D002921:Cicatrix / Q000453:epidemiology / Q000235:genetics*; D002971:Cleft Lip / Q000453:epidemiology* / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D015995:Prevalence