[Van der Woude syndrome in combination with ring chromosome 18].
7-month-old girl with a combination of van der Woude syndrome and ring chromosome 18 showed the following malformations: medial palate cleft, fistulas of the lower lips, hypertelorism, epicanthus, antimongoloid position of the eyelids, a small hymenal appendix, plantar placing of the third toe, atrial septum defect, stenosis of the auditory canal. The combination of fistulas of the lower lip and cleft lip or palate already established the diagnosis of Van der Woude Syndrome. Because of the additional malformations observed a chromosome analysis was performed which demonstrated a ring chromosome 18. The phenotypic features of ring-chromosome 18, a 18p-/18q- syndrome, vary according to the extend of deletion of the short or long arm. However, all patients show craniofacial dysmorphism, intellectual and developmental retardation, defective hearing, speech disorder, and more than 50% have stenosis or atresia of the auditory canal.
Kalker
U
U
Universitäts-Kinderklinik Frankfurt.
Gabriel
M
M
Jacobi
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005402:Fistula / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D007223:Infant; D008047:Lip Diseases / Q000235:genetics*; D012303:Ring Chromosomes; D013577:Syndrome
Van der Woude-Syndrom in Kombination mit Ringchromosom 18.