An unknown syndrome of nose deformity, oxycephaly, aplasia of the nasolacrimal ducts, and symmetrical cyst formation on the upper lip in siblings: craniorhiny.
An unknown syndrome of oxycephaly, nose deformity, hair growth on the skin at the base of the nose, symmetrical cyst formation on the upper lip, and aplasia of the nasolacrimal ducts in a mother and her three children is presented. This syndrome showed autosomal dominant inheritance. All three children were operated on. Oxycephaly and lip deformity in two of the children and hypertelorism that existed in addition to the other anomalies in the third were all corrected. All corrective surgery was performed during a single session for each child.
Mindikoğlu
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Department of Plastic and Reconstructive Surgery, University of Istanbul, Türkiye.
Erginel
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Cenani
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D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D003398:Craniosynostoses; D003560:Cysts / Q000151:congenital*; D005260:Female; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D009301:Nasolacrimal Duct / Q000002:abnormalities*; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome