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Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare disorder which may occur sporadically or inheritably as an autosomal dominant condition. It is characterized by defects in the lacrimal apparatus, ear problems, and dental and digital abnormalities. However, specific symptoms vary greatly among the cases with a high degree of overl...
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Citations
... 2 Apart from this, FGF3 deficits can lead to concomitant malformations of the outer ear and small and widely spaced teeth, and then it is called the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. [3][4][5][6][7][8] This is an extremely rare autosomal recessive disorder, for which no prevalence is known to date, and for which a recent literature review reported 24 pathogenic and likely pathogenic variants of the FGF3 gene. 3 The complete absence of inner ear structures in labyrinthine aplasia precludes rehabilitation with cochlear implants (CIs), devices that directly stimulate the auditory nerve with an electrode array, placed in the scala tympani of the cochlea. ...
Here, we describe two congenitally deaf male siblings with the same compound heterozygotic, likely pathogenic mutations in the FGF3 gene, associated with the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Both children had bilateral cochleovestibular aplasia, precluding cochlear implantation. The elder brother received an auditory brainstem implant (ABI) with very limited auditory responses. During the ABI-surgery of the younger subject, it was discovered that excellent auditory responses could be obtained when the electrode array was placed considerably more caudally and more medially than standard. It was observed that the foramen of Luschka, the entrance to the lateral recess of the fourth ventricle was located more caudally. In view of this observation the good auditory development of the latter child, it was decided to give the older child a contralateral ABI. Again, it turned out that the anatomy of the brainstem was abnormal with a more caudal location of the foramen of Luschka and the cochlear nucleus, and this child is showing good progress with his auditory development. It is concluded that one should be aware of the anatomical differences at the level of the brainstem when placing an ABI in children with this genetic disorder (and most likely also in the LAMM syndrome). This also underpins the need of a multidisciplinary approach with closely collaborating team members and good family guidance when diagnosing and treating children with rare deafness.
... Obstruction of the lacrimal ducts can occur in 71.4% of LADD carriers. [2][3][4][5][6]8,[11][12][13]17,20,[22][23][24][25][26]28,29] Even with nasolacrimal duct obstruction, acute dacryocystitis never occurred in the present case because the upper lacrimal system was absent and bacteria could not access the cyst. However, chronic dacryocystitis has been reported in LADD cases with patent upper lacrimal excretory system. ...
... Other phenotypic characteristics of LADD were present in our patient including the low-set and cup-shaped auricles, which occur in 78.2% of LADD patients. [1][2][3][4][6][7][8][9][10][11][12][13][14][15][16][19][20][21]25,27,29] The malformations of the auricular pavilion can be quite variable, ranging from slight changes to the nonformation of the ear. ...
... Dental anomalies are very common characteristic in LADD disease, present in 91.1% of the cases. [1][2][3][4][5][7][8][9][10][11][12][13][14][15][17][18][19][20][21][22][24][25][26][27][28][29] Hypoplasia or aplasia of salivary glands Figure 2: Axial computed tomography scan showing right cystic lesion, fluid-filled structure (black arrows). Bilateral dilatated nasolacrimal duct ending in bone obstruction. ...
We report a healthy 18-year-old male Saudi with bilateral agenesis of the lacrimal puncta and canaliculi associated with large dacryocystocele on the right side without tearing or inflammation, detected in conjunction with other characteristic features of lacrimo-auriculo-dento-digital dysplasia syndrome. Computed tomography scan indicated that dacryocystoceles were bilateral and asymmetrical, with large dimensions at the right side and associated to a right side maxillary sinus mucocele. The right dacryocystocele was surgically removed, and the histology indicated characteristics of the lacrimal sac. The liquid content of the dacryocystocele was negative for microbes. The atypical mucocele in the maxillary sinus disappeared after dacryocystocele removal probably, due to recovery of sinus drainage.
... Twenty-three previous case reports and case series are summarized in Table 1 RYU et al. Levy, 1967;Mathrawala & Hegde, 2011;McKenna, Burke, & Mellan, 2009;Meuschel-Wehner, Klingebiel, & Werbs, 2002;Milunsky, Zhao, Maher, Colby, & Everman, 2006;Moses, 2013;Ostuni et al., 1995;Pathivada, Krishna, & Rallan, 2016;Ramirez & Lammer, 2004;Rohmann et al., 2006;Roodhooft, Brussaard, Elst, & Van Acker, 1990;Seymen et al., 2017;Shiang & Holmes, 1977;Talebi, Mardasi, Asl, Bavarsad, & Tizno, 2017;Thompson, Pembrey, & Graham, 1985). LADD syndrome may be genetically diagnosed, as it is known to be caused by mutations in FGFR2, FGFR3, and FGF10 (Rohmann et al., 2006;Shams et al., 2007). ...
Background
Lacrimo‐auriculo‐dento‐digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2 ), FGFR3 , or FGF10 . Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.
Case Presentation
Proband was an 11‐year‐old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low‐set/cupped ear auricles, and hearing loss in the left ear.
Methods
Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.
Results
Molecular studies revealed a novel heterozygous missense mutation in exon 11 of FGFR2 : c.1547C>T (p.Ala516Val), compatible with LADD syndrome.
Conclusion
To the best of our knowledge, this is the first report of a family with LADD syndrome in Korea. The combination of xerostomia and xerophthalmia, seen in patients with LADD syndrome, may be misdiagnosed as Sjogren syndrome. WES may be a useful clinical tool in ascertaining the affected gene in patients with suspected genetic disorders. Here, a literature review and summary of 23 case reports/series of LADD syndrome are presented, which may help to identify patients with this condition.
Lacrimo-auriculo-dento-digital syndrome (LADD) is a rare autosomal dominant disorder arising from heterozygous mutations in the genes encoding fibroblast growth factor receptors two and three and the gene encoding the fibroblast growth factor 10. The characteristics associated with LADD are mainly related with hypoplasia or aplasia of lacrimal and salivary ducts, low cup-shaped ears, sensorineural or conductive hearing loss, abnormalities of teeth, and anomalies of the hands and feet. The purpose of this paper is to describe a 13-year-old female patient with a history of a blocked tear duct, mild hearing loss, congenitally missing teeth, tauro- dontism, and malformation of the fingers who was referred for a dental evaluation. She was diagnosed with LADD syndrome based on her clinical picture. (J Dent Child 2019;86(1):53-60)
Received August 16, 2018; Last Revision November 8, 2018; Accepted November 9, 2018.
