International Journal of Pediatric Otorhinolaryngology
Case reportCharacteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: Case report of a family and literature review
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.
References (24)
- et al.
The lacrimo-auriculo-dento-digital syndrome
J. Pediatr.
(1973) - et al.
Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome
Am. J. Ophthalmol.
(1993) Mesoectodermal dysplasias. A new combination of anomalies
Am. J. Ophthalmol.
(1967)Mendelian inheritance in man
(1998)Smith's Recognizable Patterns of Human Malformation
(1997)- et al.
Lacrimo-auriculo-dento-digital (LADD) syndrome
Birth Defects Orig. Artic. Ser.
(1974) - et al.
The lacrimo-auriculo-dento-digital syndrome
Pediatrics
(1977) - et al.
Levy–Hollister syndrome
Pediatrics
(1988) - et al.
LADD syndrome: Report of new cases and review of the clinical spectrum
Eur. J. Pediatr.
(1986) - et al.
Phenotypic variation in LADD syndrome
J. Med. Genet.
(1985)
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies
Am. J. Med. Genet.
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies
Clin. Genet.
Cited by (39)
A neglected case of major salivary gland aplasia causing multi-surface caries and periapical radiolucencies: Review of literature and case report
2023, Journal of Oral and Maxillofacial Surgery, Medicine, and PathologyDental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability
2017, Journal of the American Dental AssociationCitation Excerpt :As Wiedemann and Drescher10 pointed out, aplasia or hypoplasia of the salivary glands leads to dry mouth and early onset of severe dental caries. The clinical features of LADD syndrome have been well documented and include lacrimal anomalies,2,3,9-20 auricular abnormalities (cup-shaped ears, hypoplastic helix and antihelix, hearing impairment),2,3,9,14,15,17-19,21-26 dental anomalies (small peg-shaped maxillary lateral incisors, enamel dysplasia, and dental caries—often precipitated by salivary gland abnormalities, decreased saliva production, and xerostomia),2,9-12,14-19,22-28 and digital and skeletal findings (syndactyly, polydactyly, clinodactyly, triphalangeal thumb, or radioulnar synostosis).17-19,27 Inter- and intrafamilial variability is common.
FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands
2016, Developmental BiologyCitation Excerpt :Mutations in FGF10 or its receptor FGFR2b, lead to Lacrimo Auriculo Dento Digital (LADD) syndrome (OMIM 149730) in humans. This anomaly is characterized by hypoplasia, atresia or aplasia of the salivary glands and the lacrimal glands of the eyes, and obstruction of the nasolacrimal duct (Shiang and Holmes, 1977; Inan et al., 2006). A milder form of this disease, known as Aplasia of Lacrimal and Salivary Glands (ALSG) (OMIM 180920), gives rise to the same symptoms as LADD, most often including xerothalmia (dryness of the eye) and xerostomia (dry mouth) (Wiedemann, 1997; Milunsky et al., 1990).
Imaging of Pediatric Orbital Diseases
2015, Neuroimaging Clinics of North AmericaCitation Excerpt :The differential diagnosis includes meningocele and neuroglial heterotopia, which can appear cystic but project into the nasal cavity above the inferior turbinate. Aplasia or hypoplasia of the lacrimal gland is a rare disorder that is sometimes associated with aplasia of the salivary glands in the aplasia of the lacrimal and salivary gland syndrome36 or with abnormalities of the ears, teeth, and digits in the lacrimoauriculodentodigital syndrome.37 Patients present with alacrima, and imaging reveals absence or marked paucity of lacrimal tissue.
Clinical diagnosis of familial Levy-Hollister syndrome
2014, Anales de PediatriaComplete agenesis of major salivary glands
2013, International Journal of Pediatric Otorhinolaryngology