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Page 1
Pfeiffer syndrome.
Vogels A, Fryns JP. Vogels A, et al. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. Orphanet J Rare Dis. 2006. PMID: 16740155 Free PMC article. Review.
Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three ty …
Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental de …
Fifth toe deformities: overlapping and underlapping toe.
Talusan PG, Milewski MD, Reach JS Jr. Talusan PG, et al. Foot Ankle Spec. 2013 Apr;6(2):145-9. doi: 10.1177/1938640013477129. Epub 2013 Feb 25. Foot Ankle Spec. 2013. PMID: 23439610 Review.
Pediatric overlapping fifth toe often corrects with normal ambulation and physicians only need to intervene if symptomatic deformity persists. ...Underlapping fifth toe (or "curly" toe) deformity is also felt to be congenital. In most cases, underlappi …
Pediatric overlapping fifth toe often corrects with normal ambulation and physicians only need to intervene if symptomatic def …
Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
Rai R, Iwanaga J, Dupont G, Oskouian RJ, Loukas M, Oakes WJ, Tubbs RS. Rai R, et al. Childs Nerv Syst. 2019 Sep;35(9):1451-1455. doi: 10.1007/s00381-019-04244-7. Epub 2019 Jun 21. Childs Nerv Syst. 2019. PMID: 31222448 Review.
INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings. ...This disorder is gen …
INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and …
The newborn foot.
Gore AI, Spencer JP. Gore AI, et al. Am Fam Physician. 2004 Feb 15;69(4):865-72. Am Fam Physician. 2004. PMID: 14989573 Free article. Review.
Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical talus (rigid flatfoot), and multiple digital deformities-polydactyly, syndactyly, overlapping toes, and amniotic bands. Most tr …
Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical t …
Superficial acral fibromyxoma.
Sawaya JL, Khachemoune A. Sawaya JL, et al. Int J Dermatol. 2015;54(5):499-508. doi: 10.1111/ijd.12750. Epub 2015 Mar 13. Int J Dermatol. 2015. PMID: 25772615 Review.
It is typically slow-growing and asymptomatic, which, coupled with its nonspecific clinical appearance, presents a diagnostic dilemma to the dermatologist. As these features overlap with those of a multitude of differential diagnoses, it is imperative to have a good unders …
It is typically slow-growing and asymptomatic, which, coupled with its nonspecific clinical appearance, presents a diagnostic dilemma to the …
A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.
Al-Qattan MM. Al-Qattan MM. Biomed Res Int. 2020 May 15;2020:2067186. doi: 10.1155/2020/2067186. eCollection 2020. Biomed Res Int. 2020. PMID: 32509852 Free PMC article. Review.
In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals. Due to the phe …
In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndact …
Some Reactive Lesions of Bone Are Probably Neoplasms.
Memon RA, Wei S, Siegal GP. Memon RA, et al. Arch Pathol Lab Med. 2022 Jan 1;146(1):60-69. doi: 10.5858/arpa.2020-0817-RA. Arch Pathol Lab Med. 2022. PMID: 33946096 Free article. Review.
.-: Some lesions previously thought to be reactive are locally aggressive and demonstrate reproducible molecular abnormalities, and thus may be neoplasms. Although most common in the bones of the fingers and toes, these lesions also occur in long and other bones. The clini …
.-: Some lesions previously thought to be reactive are locally aggressive and demonstrate reproducible molecular abnormalities, and thus may …
Pitfalls in the detection of citrullination and carbamylation.
Verheul MK, van Veelen PA, van Delft MAM, de Ru A, Janssen GMC, Rispens T, Toes REM, Trouw LA. Verheul MK, et al. Autoimmun Rev. 2018 Feb;17(2):136-141. doi: 10.1016/j.autrev.2017.11.017. Epub 2017 Dec 2. Autoimmun Rev. 2018. PMID: 29203292 Free article. Review.
We observed that some antibodies are able to distinguish between carbamylation and citrullination, but an overlap in reactivity is often present in the commercially available anti-citrulline antibodies. ...
We observed that some antibodies are able to distinguish between carbamylation and citrullination, but an overlap in reactivity is of …
Atelosteogenesis type 2.
Newbury-Ecob R. Newbury-Ecob R. J Med Genet. 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. J Med Genet. 1998. PMID: 9475095 Free PMC article. Review.
Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it has recently been confirmed that both syndromes result from mutations i …
Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-le …
A clinical and neurobehavioural review of high-functioning autism and Asperger's disorder.
Rinehart NJ, Bradshaw JL, Brereton AV, Tonge BJ. Rinehart NJ, et al. Aust N Z J Psychiatry. 2002 Dec;36(6):762-70. doi: 10.1046/j.1440-1614.2002.01097.x. Aust N Z J Psychiatry. 2002. PMID: 12406118 Review.
RESULTS: The clinical profiles of autism and Asperger's disorder contain a mixture of psychiatric and neurological symptoms: for example, movement abnormalities (i.e. stereotyped behaviours, hand flapping, toe walking, whole-body movements), atypical processing of parts an …
RESULTS: The clinical profiles of autism and Asperger's disorder contain a mixture of psychiatric and neurological symptoms: for example, mo …
37 results