Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Morava, Éva; Illés, Tamás; Weisenbach, J; Kárteszi, Judit; Kosztolányi, György

doi:10.1002/ajmg.a.10831

Cited by 19 publications

(22 citation statements)

References 15 publications

(15 reference statements)

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“…The findings in our patient are at variance with the diagnoses of Proteus syndrome [Biesecker et al, 1999], frontometaphyseal dysplasia [Glass and Rosenbaum, 1995; Morava et al, 2003], and multiple hamartoma syndrome (Bannayan–Riley–Ruvalcaba/Cowden syndrome) [Marsh et al, 1999; Cohen et al, 2002].…”

Section: Discussioncontrasting

confidence: 43%

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?

Adam

Kobori

Cusmano‐Ozog

et al. 2008

American J of Med Genetics Pt A

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We report on an Ethiopian female with generalized overgrowth of postnatal onset accompanied by progressive and symmetric overgrowth of skeletal and soft tissues. Her phenotype consisted of progressive and symmetric overgrowth of the supraorbital ridges, glabella, occiput, cervical spine, and distal phalanges of all extremities, but particularly the 3rd and 4th digits. She also has overgrowth of soft tissues of the posterior neck (thought to be fatty in origin), alveolar hyperplasia, and overgrowth of the skin comprising the areola and umbilicus. Other clinical findings included obstructive sleep apnea and normal intelligence. A genetic workup of extended banding chromosome analysis and chromosomal microarray were normal, as were PTEN and FNLA mutation analyses. Histologic examination of the excised supraorbital ridges demonstrated normal bone. However, the bone began to regrow in a symmetric fashion within 3 months of removal. This patient's phenotype is at variance with any known overgrowth syndrome.

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Section: Discussioncontrasting

confidence: 43%

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?

Adam

Kobori

Cusmano‐Ozog

et al. 2008

American J of Med Genetics Pt A

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“…The axial skeleton can exhibit vertebral fusions, deficiency of the posterior vertebral arches and scoliosis (Morava et al, 2003). The appendicular skeleton can demonstrate bowing of the long bones, radial head dislocation, carpal and tarsal coalition, and undermodelled metacarpals, metatarsals and phalanges.…”

Section: Molecular Pathology Of Filamin a Robertson 127mentioning

confidence: 99%

Molecular pathology of filamin A: diverse phenotypes, many functions

Robertson¹

2004

Clinical Dysmorphology

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Defective cell signalling during embryonic development is a well-recognized modus operandi of mutations in genes that lead to congenital malformations. This signalling occurs within and around a dynamic cellular cytoskeleton that is continuously under modulating influences during morphogenesis. Evidence is accumulating to suggest that filamin A, an actin-binding protein and the product of one of three paralogous filamin genes in humans, represents a key molecule that connects such signalling events to modulation of the cellular cytoskeletal architecture. This review summarizes the clinical consequences of mutations in the gene encoding filamin A, FLNA. The molecular pathology of this gene suggests remarkable functional pleiotropy, indicative of diverse roles in embryonic, fetal and postnatal development.

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“…Morava et al described another male patient diagnosed with frontometaphyseal dysplasia who had recurrent hematuria. Cystourogram results suggested the presence of a mild constriction at the proximal urethra, which required treatment with antibiotics [11]. …”

Section: Discussionmentioning

confidence: 99%

Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report

et al. 2012

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BackgroundFrontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.Case presentationA 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal.ConclusionsIn the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.

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Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Cited by 19 publications

References 15 publications

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?

Molecular pathology of filamin A: diverse phenotypes, many functions

Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report

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