Case report
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: Case report of a family and literature review

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Summary

We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.

Introduction

Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also referred to as Levy–Hollister syndrome, is a congenital condition associated with cup-shaped, low set ears, mixed sensorineural and conductive hearing loss, peg-shaped teeth and clinodactyly being most common [1], [2], [3], [4]. Hollister and associates first described the LADD syndrome in 1973 [3], [4]. Up until now, about 30 cases have been described in the pediatric and genetic literature, demonstrating an autosomal dominant inheritance pattern with variable expression [1], [2], [3], [4], [5], [6], [7].

The otolaryngologic features, as initially described by Hollister and associates included cup shaped ears and hearing loss [8]. In 1985, Thompson et al. described new findings of xerostomia and keratoconjunctivitis sicca of the LADD syndrome [9]. We described a family with LADD syndrome which represents a varying number of features.

Because this syndrome has different levels of expressivity and presentations; we wanted to inform otolaryngologists about this aspect by presenting six members of the same family with different otolaryngologic and systemic manifestations.

Section snippets

Case report

A 13-year-old boy with deafness was referred to our clinic. On otolaryngologic examination cup-shaped and low set ears were noticed (Fig. 1a and b). External auditory canals and tympanic membranes were normal on both sides. Audiometric examination revealed bilateral severe mixed type hearing loss (pure tone average on left ear was 95 dB and right ear was 85 dB). On temporal bone computed tomography (CT) the middle ear ossicles were defective on both sides (Fig. 2). On the right side, there was

Discussion

The patients herein described represent isolated new cases with LADD syndrome. The exact frequency of LADD syndrome is unknown. The cases with silent features may be overlooked. It is considered a rare disorder, but its prevalence has probably been underestimated. In 1967, Levy reported a patient with aplasia of the nasolacrimal duct, protruding ears, dysplastic teeth and radial ray defects in the upper limbs [10]. In 1973, Hollister et al. independently described a family with similar

Conflicts of interest

The authors have no proprietary or commercial interest in products or concepts discussed in this article.

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