A novel finding of oligodontia and ankyloglossia in a 14‐year‐old with Floating‐Harbor syndrome

Singh, Ashish Kumar; Bhatia, Hind Pal; Sood, Shveta; Sharma, Naresh Kumar; Mohan, Akhilesh

doi:10.1111/scd.12257

Cited by 10 publications

(13 citation statements)

References 10 publications

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“…In addition, some previously reported features were not observed in our patients. These features include cleft lip/pseudocleft lip, high-arched palate, velopharyngeal insufficiency, hyperopia, recurrent otitis media, astigmatism, conductive hearing loss, clavicular pseudarthrosis, clavicular hypoplasia, hip dysplasia, scoliosis/kyphosis, Renal/collecting system anomalies, hydronephrosis, polycystic kidneys, seizures, Legg-Calvé-Perthes disease, syndactyly, hirsutism, hypertension, oligodontia and supernumerary maxillary teeth [6–8, 15, 16, 23, 30]. These features are not common and they may not be observed in a small patient cohort.…”

Section: Discussionmentioning

confidence: 99%

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Zhang

Chen

Qin

et al. 2019

Orphanet J Rare Dis

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Background Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP . Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of growth hormone treatment existed. Methods We ascertained 12 short stature patients with molecularly confirmed diagnosis of FHS by whole exome sequencing. We performed a comprehensive clinical evaluation for all patients and assessed the responsiveness of growth hormone treatment in a subset of the patients. Results Five distinct pathogenic/likely pathogenic variants were identified in 12 independent FHS patients including two previously reported variants (c.7303C > T/p.Arg2435Ter and c.7330C > T/p.Arg2444Ter) and three novel variants (c.7189G > T/p.Glu2397Ter, c.7245_7246delAT/p.Ser2416ArgfsTer26 and c.7466C > G/p.Ser2489Ter). The c.7303C > T/p.Arg2435Ter mutation appears more common in Chinese FHS patients. The clinical presentations of Chinese FHS patients are very similar to those of previously reported patients of different ethnicities. Yet we noticed micropenis and ear abnormalities in multiple patients, suggesting that these may be novel phenotypes of Floating-Harbor syndrome. Eight patients (one with GH deficiency, one with undetermined GH level, six without GH deficiency) underwent growth hormone treatment, 3 patients had good responses, one with modest and two with poor responses. Conclusion We described novel genotypes and phenotypes in a Chinese FHS patient cohort. We showed that about half of FHS patients exhibited modest to good response to GH treatment regardless of their respective GH deficiency status. We didn’t find any correlation between different mutations and response to GH treatment. Electronic supplementary material The online version of this article (10.1186/s13023-019-1111-8) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Zhang

Chen

Qin

et al. 2019

Orphanet J Rare Dis

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“…There is a great variation of anatomical characteristic of lingual frenulum reported in the literature including both healthy 2-7 subjects and individuals with syndromes [23][24][25][26][27][28] . However, the literature about posterior lingual frenulum is scarce [8][9][10][11][12][13] .…”

Section: Discussionmentioning

confidence: 99%

Posterior lingual frenulum in infants: occurrence and maneuver for visual inspection

Martinelli

Marchesan²,

Berretin-Felix

2018

Rev. CEFAC

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Purpose: to verify the occurrence of posterior or submucosal lingual frenulum and evaluate the efficiency of a special maneuver for its visual inspection. Methods: an experimental study including 1,715 healthy infants, in which prematurity, perinatal complications, craniofacial anomalies neurological disorders, and visible genetic syndromes were the exclusion criteria. A clinical examination was performed by means of a maneuver that consisted in rising the lateral margins of the tongue to visualize the anatomical characteristics of the lingual frenulum. In some of the infants, a special maneuver was performed to assist visualization of posterior lingual frenulum, since its visualization was not possible. The maneuver consisted in two simultaneous actions: elevating and pushing the tongue back. Results: 558 infants (32.54%), out of the 1,715 had posterior frenulum, which required the special maneuver that consisted in both elevating and pushing the tongue back, simultaneously. Conclusion: the occurrence of posterior lingual frenulum was high and the special maneuver consisted in elevating and pushing the tongue back proved to be efficient to visualize the posterior lingual frenulum.

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“…Ankyloglossia was also found associated with certain rare syndromes Van der Woude syndrome [6], X-linked cleft palate syndrome, Opitz syndrome [7], Kindler syndrome [8] and Floating-Harbor syndrome [9]. However, the majority of OHDM-Vol.…”

Section: Discussionmentioning

confidence: 99%

Use of 980nm Diode laser for lingual frenectomy: A case report

Javied¹,

Zafar²

2019

ohdm

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A frenum is a soft tissue attachment of the labial, buccal and lingual mucosa to the jaw bones. Abnormalities in development of this soft tissue fold may present as a very short lingual frenum limiting the mobility of the tongue. This condition is termed as ankyloglossia or tongue tie. The surgical technique is used to reposition the frenum and correct the functional impairments caused by ankyloglossia. This case report presents a 30 years old male patient with impairment of speech due to the short lingual frenum. 980 nm diode laser was used for frenectomy which showed minimal pain and healing with no complications. Surgical procedures like frenectomy and biopsy of oral lesions can be effectively carried out using Diode laser.

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A novel finding of oligodontia and ankyloglossia in a 14‐year‐old with Floating‐Harbor syndrome

Cited by 10 publications

References 10 publications

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Posterior lingual frenulum in infants: occurrence and maneuver for visual inspection

Use of 980nm Diode laser for lingual frenectomy: A case report

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