Authors: D. Ďurovčíková 1; K. Vicianová 2; I. Elizová 3; I. Mľkvá 1; D. Zmajkovičová 1; M. Lukáčová 1 Authors‘ workplace: Subkatedra klinickej genetiky SZU a Centrum lekárskej genetiky FN, Bratislava1 vedúca MUDr. M. Lukáčová, CSc. I. detská klinika DFNsP, Bratislava2prednostka doc. MUDr. M. Benedeková, PhD. Klinika detskej oftalmológie DFNsP, Bratislava3prednosta prof. MUDr Published in: Čes-slov Pediat 2003; (9): 563-565. Category:
Lacrimo-auriculo-dento-digital syndrome (LADD sy) involves the association of craniofacial, digital and organanomalies. Until now 31 cases have been published confirming monogenic autosomal dominant syndrome withvariable expressivity (1, 3, 10). A case of a baby girl with bronchopulmonary dysplasia and spontaneous pneumothoraxdiagnosed early after delivery is presented. Cystic fibrosis was eliminated after repeated examinations. Atthe age of 2 years genetic examination due to growth retardation was performed. Repeated dacryocystitis, lacrimalduct stenosis, identical cup-shaped ears, small dental crowns, clinodactyly and dicolored splitting nails were foundin the child and her father. The above symptoms are suggestive of familial LADD syndrome so far unpublished inour literature. The cause of LADD syndrome is a mutation of an unidentified gene that may play a role of astranscription factor of early mesoectodermic structure morphogenesis.
Key words: lacrimal duct stenosis, bronchopulmonary dysplasia, spontaneous pneumothorax, autosomaldominant LADD syndrome
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