Surgical Management of Facial Features of Robinow Syndrome: A Case Report

Mossaad, Aida M.; Abdelrahman, Moustapha A.; Ahmady, Hatem H. Al

doi:10.3889/oamjms.2018.129

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…A confirmatory genetic panel consisting of DVL1 , DVL3 , FZD2 , NXN , ROR2 , WNT5A , and GPC4 should be obtained if craniofacial evaluation substantiates a high suspicion for this diagnosis. Surgical management considerations include correction of midface deficiency with zygomatic augmentation, rhinoplasty to address nasal deformities, release of labial musculature, and orthodontic treatment (Mossaad, Abdelrahman, Ibrahim, & Al Ahmady, 2018).…”

Section: Discussionmentioning

confidence: 99%

Craniofacial phenotypes associated with Robinow syndrome

Conlon

Abu‐Ghname

Raghuram

et al. 2020

American J of Med Genetics Pt A

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Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. Due to low prevalence and considerable phenotypic variability, it has been challenging to definitively characterize features of Robinow syndrome. While craniofacial abnormalities associated with Robinow syndrome have been broadly described, there is a lack of detailed descriptions of genotype-specific phenotypic craniofacial features. Patients with Robinow syndrome were invited for a multidisciplinary evaluation conducted by specialist physicians at our institution. A focused assessment of the craniofacial manifestations was performed by a single expert examiner using clinical examination and standard photographic images. A total of 13 patients with clinical and molecular diagnoses consistent with either dominant Robinow syndrome (DRS) or recessive Robinow syndrome (RRS) were evaluated. On craniofacial examination, gingival hyperplasia was nearly ubiquitous in all patients.Orbital hypertelorism, a short nose with anteverted and flared nares, a triangular mouth with a long philtrum, cleft palate, macrocephaly, and frontal bossing were not observed in all individuals but affected individuals with both DRS and RRS. Other anomalies were more selective in their distribution in this patient cohort. We present a comprehensive analysis of the craniofacial findings in patients with Robinow Syndrome, describing associated morphological features and correlating phenotypic manifestations to underlying genotype in a manner relevant for early recognition and focused evaluation of these patients.

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Section: Discussionmentioning

confidence: 99%

Craniofacial phenotypes associated with Robinow syndrome

Conlon

Abu‐Ghname

Raghuram

et al. 2020

American J of Med Genetics Pt A

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“…S9E, S9F), suggesting that Hh or canonical Wnt signaling signaling are not involved in tongue frenum formation. In addition to Lgr5 / Tbx22 , it has been shown that the deletion of non-canonical Wnt signaling-related molecules, Wnt5a and Ror2 , led to a lack of tongue frenum (Liu et al, 2012, Mossaad et al, 2018). We found p-c-Jun (marker of non-canonical Wnt signaling) positive cells in wild-type tongue frenum at E12, and in AP region at E11.5 (Fig.…”

Section: Resultsmentioning

confidence: 99%

Coordinated multiple cellular processes in tongue development

Kawasaki

Sari

et al. 2023

Preprint

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Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma and ankyloglossia are also seen in ciliopathies, which yield difficulties in fundamental functions such as mastication and vocalization. Here, we found these tongue anomalies in mice with mutation of ciliary protein. Abnormal cranial neural crestderived cells (CNCC) failed to evoke Hh signal for differentiation of mesoderm-derived cells into myoblasts, which resulted in abnormal differentiation of mesoderm-derived cells into adipocytes. The ectopic adipose subsequently arrested migration of other mesoderm-derived cells and CNCC. Some aberrant CNCC abnormally differentiated into osteoblasts due to the lack of Hh signal, which migrated into tongue to form ectopic bone. Ankyloglossia was caused by aberrant cell migration due to lack of non-canonical Wnt signaling. In addition to ciliopathies, these tongue anomalies are often observed as nonfamilial condition in human. We found that these tongue deformities could be reproduced in wild-type mice by simple mechanical manipulations in CNCC to disturb cellular processes which were disrupted in mutant mice. Thus, tongue development requires coordinated multiple cellular processes (cell-cell contact, migration and differentiation). Our results provide hints for possible future treatment in ciliopathies.

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