Most tumors are isolated lesions that are present at birth or arise within the first few years of life. Others are associated with what is termed the “epidermal nevus syndrome.” [dermatology.mhmedical.com]

Presentation[edit] Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor.[2] Featured symptoms [en.wikipedia.org]

Here, the chondrocytes present with perinuclear cytoplasmic retraction and vacuolization and with circumferential halos. [ncbi.nlm.nih.gov]

There are four major recognized types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare types described, such as 9: Hall-Piepkorn type Le Marec type [radiopaedia.org]

Distinctive radiographic findings are similar to AOI but, BD presents with a more severe deficiency in mineralization, with non-ossification of certain segments of limbs and vertebrates, and a boomerang-like shape of some long tubular bones. [malacards.org]

• Microstomia

  Exophthalmos ++ + + + − −  Microstomia + + + + + −  Microretrognathia + + + + + +  Pierre Robin anomaly + + + CLP bilat. + ?   [ncbi.nlm.nih.gov]

• Low Set Ears

  The ears were low set and posteriorly rotated, the neck was short, the thorax was short and narrow, and the lungs were accordingly hypoplastic. The abdomen was distended and associated with an omphalocele in Cases 2 & 4. [ncbi.nlm.nih.gov]

• Platyspondyly

  Thoracic platyspondyly MedGen UID: 400049 •Concept ID: C1862428 • Finding A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  […] distal ends” of the humeri and femora, displaying a missing or seemingly global (BD) or squared and blunt (AO1) structure and associated with attenuated and shortened (in BD, bowed or boomerang like) ulnae, radii, and/or single lower leg bones, and by platyspondyly [ncbi.nlm.nih.gov]

• Joint Deformity

  Joint deformations Discipline Osteoarticular pathology Origin Inist-CNRS Database PASCAL INIST identifier 2580662 Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS [pascal-francis.inist.fr]

• Short Neck

  Short neck MedGen UID: 99267 •Concept ID: C0521525 • Finding Diminished length of the neck. Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Clinically, unusual facies, short neck, narrow thorax, cleft palate, encephalocele, and reduced joint mobility are commonly seen. [nature.com]

• Short Nose

  Short nose MedGen UID: 343052 •Concept ID: C1854114 • Finding Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

(IV) thin invasive melanoma (pathologic stage [p]T1a), with wide excision with at least 1-cm margins (24%); and (V) thicker invasive melanoma (pT1b or greater), with wide excision with at least 1-cm margins and consideration of additional diagnostic workup [jamanetwork.com]

These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome: occasionally characterized as [radiopaedia.org]

Further, some of these lesions may indicate underlying conditions that require additional evaluation and treatment. [dermatology.mhmedical.com]

[…] the study by Elmore et al.3 shows a low level of diagnostic concordance and accuracy for intermediate-class lesions such as dysplastic nevi, melanomas in situ, and invasive T1a melanomas that could result in over 17% of patients receiving incorrect treatments [actasdermo.org]

The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists. [meta.org]

(July 2017) Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome: occasionally characterized as [radiopaedia.org]

Prognosis Prognosis is poor, as the condition is lethal in utero. MalaCards based summary : Boomerang Dysplasia, also known as boomd, is related to larsen syndrome and skeletal dysplasias. [malacards.org]

PMID: 9779808 Prognosis S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H Molecules 2020 Nov 26;25(23) doi: 10.3390/molecules25235543. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Etiology BD results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, normally expected to translate full length but biochemically abnormal filamin B protein. [malacards.org]

GTR MeSH CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar CROGVAtelosteogenesis CROGVAtelosteogenesis type 1 CROGVAtelosteogenesis type II CROGVAtelosteogenesis type III Atelosteogenesis Atelosteogenesis type 1 Etiology Pediatr Dev Pathol [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI. [nature.com]

Epidemiology The prevalence of BD is unknown. [malacards.org]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5: 91–97. PubMed Article Google Scholar 57 Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543: 1–15. [nature.com]

Contents 1 Characteristics 2 Genetics 3 Pathophysiology 4 References 5 See also Characteristics Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation [dictionnaire.sensagent.leparisien.fr]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5: 91–97. PubMed Article Google Scholar 57 Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543: 1–15. [nature.com]