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Quoted phrase not found in phrase index: "Hyperextensibility of the finger joints"
Page 1
Aarskog syndrome: report of a family with review and discussion of nosology.
Teebi AS, Rucquoi JK, Meyn MS. Teebi AS, et al. Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. Am J Med Genet. 1993. PMID: 8322809 Review.
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria i …
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip …
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.
Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent jo …
Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic …
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.
Itin PH, Eich G, Fistarol SK. Itin PH, et al. Dermatology. 2006;213(2):153-5. doi: 10.1159/000093857. Dermatology. 2006. PMID: 16902295
A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between d …
A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. …
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.
Here, we report two unrelated Italian women with TNXB-clEDS due to compound heterozygosity for null alleles in TNXB. Both presented soft and hyperextensible skin, generalized joint hypermobility and related musculoskeletal complications, and chronic constipation. In …
Here, we report two unrelated Italian women with TNXB-clEDS due to compound heterozygosity for null alleles in TNXB. Both presented soft and …
A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?
Collins AL, Dennis NR, Clarke N, Pope FM. Collins AL, et al. Clin Dysmorphol. 1995 Oct;4(4):277-82. doi: 10.1097/00019605-199510000-00001. Clin Dysmorphol. 1995. PMID: 8574416
Other features include congenital dislocation of one knee (one), congenital inguinal hernia (one) and vesico-ureteric reflux (one). They also have clinodactyly and hyperextensible finger joints, both features also seen in their father, whose height is on the …
Other features include congenital dislocation of one knee (one), congenital inguinal hernia (one) and vesico-ureteric reflux (one). They als …
Diagnosis of trichothiodystrophy in 2 siblings.
Bracun R, Hemmer W, Wolf-Abdolvahab S, Focke M, Botzi C, Killian W, Götz M, Jarisch R. Bracun R, et al. Dermatology. 1997;194(1):74-6. doi: 10.1159/000246064. Dermatology. 1997. PMID: 9031799
The children showed clinical features typical of TTD and in addition other symptoms such as epilepsy, ataxia, spasticity, strabismus, atopic dermatitis, dysarthria and hyperextensible fingerjoints. The sulfur content of hair was reduced to about 50% of normal values and sc …
The children showed clinical features typical of TTD and in addition other symptoms such as epilepsy, ataxia, spasticity, strabismus, atopic …
Consideration of connective tissue dysfunction in the fragile X syndrome.
Hagerman RJ, Van Housen K, Smith AC, McGavran L. Hagerman RJ, et al. Am J Med Genet. 1984 Jan;17(1):111-21. doi: 10.1002/ajmg.1320170106. Am J Med Genet. 1984. PMID: 6711590
Eleven cytogenetically documented patients with the fragile X syndrome were evaluated for hyperextensibility of the finger joints and the presence of other manifestations of connective tissue dysfunction. All of the patients had hyperextensibility of s …
Eleven cytogenetically documented patients with the fragile X syndrome were evaluated for hyperextensibility of the finger …
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.
Cannavò S, Bartolone L, Lapa D, Venturino M, Almoto B, Violi A, Trimarchi F. Cannavò S, et al. J Endocrinol Invest. 2002 Jan;25(1):58-64. doi: 10.1007/BF03343962. J Endocrinol Invest. 2002. PMID: 11883867
Physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth …
Physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), a …
Velo-facio-skeletal syndrome in a mother and daughter.
Teebi AS, Qumsiyeh MB, Meyers-Seifer CH, Meyn MS. Teebi AS, et al. Am J Med Genet. 1995 Jul 31;58(1):8-12. doi: 10.1002/ajmg.1320580103. Am J Med Genet. 1995. PMID: 7573161
Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and norm …
Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brac …