Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding.
Lacrimal-auricular-dental-digital (LADD) syndrome comprises multiple anomalies. It can be inherited as autosomal dominant with variable expressivity or can be sporadic in nature. The clinical features of LADD syndrome include variably, lacrimal system hypoplasia, ear anomalies (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly. We would like to report a unique case series of LADD syndrome patients presenting with diffuse ophthalmoplegia and facial muscle dysfunction, which may be a distinct subset of LADD syndrome or a new syndrome itself. We believe this to be the first such report. We suggest careful examination of ocular movements in all newly diagnosed LADD syndrome patients.
Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK. likthai@doctors.org.uk
Lik Thai
LT
Lim
Robert
R
Blum
Seen Nee
SN
Chia
Darren S J
DS
Ting
Timothy E
TE
Lavy
Gordon N
GN
Dutton
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005152:Facial Muscles; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D009135:Muscular Diseases / Q000175:diagnosis; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome; D014071:Tooth Abnormalities