Craniofacial Syndromes Part II: Atypical Facial Clefts, Romberg Syndrome, Moebius Syndrome, Fibrous Dysplasia, and Neurofibromatosis

2020 ◽  
Author(s):  
Francesca Saldanha ◽  
Cory M. Resnick ◽  
Carolyn R. Rogers-Vizena
Keyword(s):  
Fibrous Dysplasia ◽  
Treatment Plan ◽  
Moebius Syndrome ◽  
Hemifacial Atrophy ◽  
Mccune Albright Syndrome ◽  
Facial Clefts ◽  
Progressive Hemifacial Atrophy ◽  
Parry Romberg Syndrome ◽  
Albright Syndrome ◽  
Craniofacial Syndromes

This final article of the two-part craniofacial series continues to provide the embryologic and developmental foundations necessary to understand congenital craniofacial pathology. Clinical characteristics and molecular genetics needed to make an accurate diagnosis and formulate a treatment plan will be detailed for atypical craniofacial clefts, Moebius Syndrome, Fibrous Dysplasia, Progressive Hemifacial Atrophy (Parry-Romberg syndrome) and Neurofibromatosis. Details of the operations applied in treatment of these disorders are discussed in separate Scientific American: Plastic Surgery (SAPS) articles as referenced. This review contains 3 tables, and 10 figures, and 42 references. Keywords: craniofacial, Tessier cleft, atypical facial cleft, Romberg syndrome, Parry-Romberg syndrome, Moebius syndrome, fibrous dysplasia, McCune Albright syndrome, neurofibromatosis

Fibrous dysplasia in McCune Albright syndrome; treatment and follow up

2015 ◽  
Author(s):  
Damla Gokeen ◽  
Samim Ozen ◽  
Nurhan Ozcan ◽  
Sukran Darcan
Keyword(s):  
Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Analyses of variable panoramic radiographic characteristics of maxillo-mandibular fibrous dysplasia in McCune-Albright syndrome

Oral Diseases ◽  
2004 ◽  
Vol 10 (1) ◽  
pp. 36-43 ◽  
Author(s):  
SO Akintoye ◽  
LL Otis ◽  
JC Atkinson ◽  
J Brahim ◽  
H Kushner ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

scholarly journals Parry Romberg Syndrome with contralateral iridocorneal endothelial syndrome: a unique case

2021 ◽  
Vol 8 (12) ◽  
pp. 1873
Author(s):  
Usha K. Raina ◽  
Shruti Bhattacharya ◽  
Prateeksha Sharma ◽  
Varun Saini
Keyword(s):  
Corneal Edema ◽  
Rare Disorder ◽  
Specular Microscopy ◽  
Unique Case ◽  
Hemifacial Atrophy ◽  
Normal Side ◽  
Ocular Manifestations ◽  
Iridocorneal Endothelial Syndrome ◽  
Progressive Hemifacial Atrophy ◽  
Parry Romberg Syndrome

Parry-Romberg syndrome (PRS) is a rare disorder which causes progressive hemifacial atrophy, with ocular manifestations like hypotony, enophthalmos and corneal edema on the ipsilateral atrophic side. This is a report of a unique case of PRS with contalateral manifestations like ectropion uvea, correctopia and endothelial deposits, along with polymegathism and pleomorphism seen on specular microscopy suggestive of Iridocorneal Endothelial (ICE) Syndrome. ICE syndrome and PRS have not been reported together in any literature so far. This case highlights the importance of a thorough glaucoma workup and corneal examination on the atrophic facial side as well as on the apparently normal side in all cases of PRS.

scholarly journals McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

2016 ◽  
Vol 89 (4) ◽  
pp. 559-564
Author(s):  
Iulian Raus ◽  
Roxana Elena Coroiu
Keyword(s):  
Fibrous Dysplasia ◽  
Insufficiency Fracture ◽  
Endocrine Disorders ◽  
Appendicular Skeleton ◽  
Laboratory Findings ◽  
Mccune Albright Syndrome ◽  
Magnetic Resonance Imaging Mri ◽  
Albright Syndrome ◽  
The Right ◽  
Mccune Albright

McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level.The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome.

scholarly journals McCune-Albright Syndrome with Exophthalmos: A Case Report

2018 ◽  
Author(s):  
Jinrong Zhao ◽  
Jinguo Yu
Keyword(s):  
Clinical Practice ◽  
Fibrous Dysplasia ◽  
Skin Pigmentation ◽  
Rare Condition ◽  
Skeletal Deformity ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Fibrous Dysplasia Of Bone ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require the rapeutic support to reduce bone pain and prevent fractures and deformities.we reported 1 case of McCune-Albright syndrome with exophthalmos in clinical practice. Case presentation:A 35-year-old female was admitted to our hospital who complained about “skin pigmentation for 35 years, vaginal bleeding for 30 years and progressive skeletal deformity for 28 years and exophthalmos for 2 years. And after the examination, she was been diagnosed with“McCune-Albright syndrome with exophthalmos”.We highlighted the pathogenesis and development of the disease in this rare condition. Conclusion: McCune-Albright syndrome with exophthalmos due to multiple fibrous dysplasia is rare but can be seen in clinical practice.

scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

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