Lacrimo-Auriculo-Dento-Digital Syndrome with Unilateral Inner Ear Dysplasia and Craniocervical Osseous Abnormalities: Ca
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Correspondence
Lacrimo-Auriculo-Dento-Digital Syndrome with Unilateral Inner Ear Dysplasia and Craniocervical Osseous Abnormalities: Case Report and Review of Literature J. E. Moses
Received: 13 April 2012 / Accepted: 31 July 2012 / Published online: 24 August 2012 © Springer-Verlag 2012
Introduction The lacrimo-auriculo-dento-digital-syndrome (LADD) syndrome is a rare autosomal dominant inherited disorder primarily affecting the lacrimal system, the auditory apparatus and the osseous system. It is also known as Levy-Hollister syndrome. We present a child with phenotypic manifestation of LADD syndrome presenting with deafness and mucopurulent discharge from both eyes. Multiple congenital anomalies were visualized on CT imaging for the temporal bones. A large foramen magnum and vertebral fusion anomalies of the cervical spine were noted. An association between LADD syndrome and vertebral fusion anomalies has not been previously reported.
(Fig. 3). The foramen magnum was enlarged and the posterior elements of multiple cervical vertebrae were fused (Fig. 4). A hemivertebra was noted between the fourth and fifth cervical vertebrae resulting in scoliosis of the cervical spine (Fig. 5). Clinically only the mandibular and maxillary incisors had erupted and were hypoplastic. CT visualization of unerupted primary teeth revealed absence of left canine (Fig. 6). An ultrasound scan of the abdomen was unremarkable. The family history did not reveal similar problems in any sibling and parents. Based on the clinical profile and the imaging features, a diagnosis of sporadic LADD syndrome was considered.
Case Report A 1 year 5 month old female child was referred for a CT scan of the temporal bones due to malformation of the right external ear and deafness. The child had a history of chronic mucopurulent discharge from the eyes. Bilateral lacrimal punctal stenoses were noted clinically. The right auricle was malformed and cup shaped (Fig. 1). The patient had preaxial polydactyly in right hand. CT imaging of the temporal bones was performed for evaluation of hearing loss and revealed anomalies of the right inner ear. “Common cavity” deformity was present with malformed and fused vestibule and cochlea (Fig. 2). The posterior and lateral semicircular canals were dysplastic. The right parotid gland was absent J. E. Moses, MD, DM () Department of Radiology, Arora Neuro Center, 120, The Mall, Civil Lines, Ludhiana 141001, Punjab, India e-mail: [email protected]
Fig. 1 Volume rendered reconstructed CT image of the patient showing “cup shaped” right ear. The antihelix is not formed and the ear is slightly low placed and protrudes laterally
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Fig. 2 “Common cavity” deformity of the inner ear (arrow) seen on axial CT image. The vestibule and cochlea are malformed and fused Fig. 4 Large foramen magnum (long arrows) and fusion of posterior elements of multiple cervical vertebrae (short arrows) are seen in the curved planar sagittal reformatted image of the spine
Fig. 3 Axial CT image showing normal parotid gland
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