Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome.
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominantly inherited disorder characterized mainly by hypoplasia/aplasia of lacrimal and salivary tracts, small cup-shaped and/or malformed ears, sensorineuronal or conductive hearing loss, abnormalities of the teeth, and variable anomalies of the hands and feet. In this case report, general and dentofacial features of 2 siblings and their father are described. Both siblings presented hypoplastic lacrimal puncta, cup-shaped/low-set ears with bilateral sensorineuronal hearing loss, broad first toes, and bilateral clinodactyly of the fifth toes. The 17-year-old female revealed mainly peg-shaped incisors, long thin-rooted teeth, malformed molars, microdontia, and enamel hypoplasia; and the 10-year-old male showed a short lingual frenulum, peg-shaped incisors, shallow cusps, agenesis of mandibular second premolars, and taurodontism. Father exhibited hypoplastic puncta, hypolacrimia, mild bilateral sensorineural hearing loss, taurodontism, and absence of some teeth. In conclusion, this case report of a family has demonstrated the various general and orofacial features encountered in LADD syndrome.
Guven
Yeliz
Y
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey. yelizgn@yahoo.com
Rosti
R Ozgur
RO
Tuna
E Bahar
EB
Kayserili
Hulya
H
Aktoren
Oya
O
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D002508:Cephalometry; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D012469:Salivary Glands / Q000002:abnormalities*; D035781:Siblings; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics / Q000473:pathology*