Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report

Santosh, Mali; Bansal, Neha; Dhokar, Amol; Yadav, Monica

doi:10.7860/jcdr/2016/16318.7469

Cited by 2 publications

(6 citation statements)

References 6 publications

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“…Ocular hypertelorism, low-set ears, broad prominent forehead, mid face hypoplasia, prominent eyes, short up turned nose with depressed nasal bridge and flared nostrils are the facial features of this clinical entity [2,4,5]. For the oral manifestations, patients exhibit large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, crowding teeth, an kyloglossia, and micrognathia [2,4,5,7].…”

Section: Discussionmentioning

confidence: 99%

“…Radiological examination is however necessary to confirm the presence of skeletal malformations [2].…”

Section: Discussionmentioning

confidence: 99%

“…For the oral manifestations, patients exhibit large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, crowding teeth, an kyloglossia, and micrognathia [2,4,5,7].…”

Section: Discussionmentioning

confidence: 99%

“…Parents must be advised for the possible need for orthodontic/ prosthodontic treatment and orthopaedic and plastic surgery procedure for facial reconstruction in case of psychological problems caused by patient's craniofacial anomalies [2].…”

Section: Dental Managementmentioning

confidence: 99%

“…It is a very rare genetic disorder with an incidence of about 1:500000 and a 1:1 male-to-female ratio [2,3].…”

Section: Introductionmentioning

confidence: 99%

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Orofacial Manifestations of Robinow’s Syndrome: 5 years Follow-up Case

Jihene¹,

Anas²

2017

IJDOS

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Section: Discussionmentioning

confidence: 99%

“…Radiological examination is however necessary to confirm the presence of skeletal malformations [2].…”

Section: Discussionmentioning

confidence: 99%

“…For the oral manifestations, patients exhibit large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, crowding teeth, an kyloglossia, and micrognathia [2,4,5,7].…”

Section: Discussionmentioning

confidence: 99%

Section: Dental Managementmentioning

confidence: 99%

“…It is a very rare genetic disorder with an incidence of about 1:500000 and a 1:1 male-to-female ratio [2,3].…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Orofacial Manifestations of Robinow’s Syndrome: 5 years Follow-up Case

Jihene¹,

Anas²

2017

IJDOS

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Clinical and molecular characterization of four patients with Robinow syndrome from different families

Rai

Patil

Srivastava

et al. 2021

American J of Med Genetics Pt A

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Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short‐limbs, craniofacial, oro‐dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant and recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes and genotypes of four children with RS from different Indian families. Sequence variants were identified in genes ROR2, DVL1, and DVL3. Our results expand the mutational spectrum of RS and we also highlight the radiological changes in the radius and ulna in patients with ROR2 sequence variants which are primarily characteristic for ROR2 related RS but have been reported in WNT5A related RS.

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Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report

Cited by 2 publications

References 6 publications

Orofacial Manifestations of Robinow’s Syndrome: 5 years Follow-up Case

Orofacial Manifestations of Robinow’s Syndrome: 5 years Follow-up Case

Clinical and molecular characterization of four patients with Robinow syndrome from different families

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