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

Abstract

BACKGROUND:Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects.CASE PRESENTATION:A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement. There was no significant prenatal history, and family history was negative for congenital disabilities and genetic disorders. Clinical examination revealed macrocephaly and special facial features as prominent forehead, deformed ear pinna, hypertelorism, flat nasal tongue tie, deficient malar bone, bow-shaped upper and lower lips and dimpled chin. Orally the patient suffered from tonetie, gingival hypertrophy and dental malalignment. The orthopantomogram showed multiple impacted teeth. The physical examination revealed that the patient had deformed spine, short limbs with ectrodactyly, micropenis & hypospadias. Surgical management included correction of midface deficiency with zygomatic augmentation, closed rhinoplasty for the broad nose, lips muscles release and tongue tie relief. The patient is currently undergoing orthodontic treatment for his teeth.CONCLUSION:Improvement of facial features and a good psychological impact on the patient and his family.

Craniofacial phenotypes associated with Robinow syndrome

“…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).…”

Coordinated multiple cellular processes in tongue development

“…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.…”