LADD syndrome: report of new cases and review of the clinical spectrum.
The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.
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HR
Wiedemann
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J
Drescher
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D012463:Saliva / Q000378:metabolism; D012469:Salivary Glands / Q000002:abnormalities*; D013666:Tears / Q000378:metabolism; D014071:Tooth Abnormalities