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Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT. Nanda A, et al. Pediatr Dermatol. 2008 Jan-Feb;25(1):66-71. doi: 10.1111/j.1525-1470.2007.00586.x. Pediatr Dermatol. 2008. PMID: 18304158 Review.
Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many phenotypic similarities in these two conditions, it has been proposed that they represent the same disorder. ...Our observations also support the con …
Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many phenotypi …
The wrinkly skin syndrome: a report of a case and review of the literature.
Hurvitz SA, Baumgarten A, Goodman RM. Hurvitz SA, et al. Clin Genet. 1990 Oct;38(4):307-13. doi: 10.1111/j.1399-0004.1990.tb03585.x. Clin Genet. 1990. PMID: 2268976 Review.
A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin …
A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands a …
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.
Gupta N, Phadke SR. Gupta N, et al. Pediatr Dermatol. 2006 May-Jun;23(3):225-30. doi: 10.1111/j.1525-1470.2006.00222.x. Pediatr Dermatol. 2006. PMID: 16780467 Review.
Cutis laxa is a heterogeneous group of disorders with variable phenotypes and inheritance patterns. Type II cutis laxa has features overlapping with wrinkly skin syndrome, as a result of which they are regarded as one disorder with a variable spectrum of seve …
Cutis laxa is a heterogeneous group of disorders with variable phenotypes and inheritance patterns. Type II cutis laxa has features overlapp …
Wrinkly skin syndrome: phenotype and additional manifestations.
Casamassima AC, Wesson SK, Conlon CJ, Weiss FH. Casamassima AC, et al. Am J Med Genet. 1987 Aug;27(4):885-93. doi: 10.1002/ajmg.1320270415. Am J Med Genet. 1987. PMID: 3321993 Review.
The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoske …
The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsu …
Del(2q)--cause of the wrinkly skin syndrome?
Kreuz FR, Wittwer BH. Kreuz FR, et al. Clin Genet. 1993 Mar;43(3):132-8. doi: 10.1111/j.1399-0004.1993.tb04437.x. Clin Genet. 1993. PMID: 8500259 Review.
Common manifestations include small size at birth, retarded growth and development, cranio-facial dysmorphism and skeletal and ocular anomalies. Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the …
Common manifestations include small size at birth, retarded growth and development, cranio-facial dysmorphism and skeletal and ocular anomal …
[Wrinkly skin syndrome].
Nakamura M. Nakamura M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):822. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529041 Review. Japanese. No abstract available.
Neurological involvement in a child with the wrinkly skin syndrome.
Azuri J, Mizrachi A, Weintraub S, Lerman-Sagie T. Azuri J, et al. Am J Med Genet. 1999 Jan 1;82(1):31-3. Am J Med Genet. 1999. PMID: 9916839 Review.
In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. ...Three additional cases w …
In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin …
Cellular physiology of the renal H+ATPase.
Blake-Palmer KG, Karet FE. Blake-Palmer KG, et al. Curr Opin Nephrol Hypertens. 2009 Sep;18(5):433-8. doi: 10.1097/MNH.0b013e32832e9c58. Curr Opin Nephrol Hypertens. 2009. PMID: 19561496 Review.
Several diseases, including distal renal tubular acidosis, osteoporosis and wrinkly skin syndrome, are due to mutations in genes encoding alternate subunits that make up the H+ATPase. ...
Several diseases, including distal renal tubular acidosis, osteoporosis and wrinkly skin syndrome, are due to mutations …
Autosomal recessive cutis laxa syndrome revisited.
Morava E, Guillard M, Lefeber DJ, Wevers RA. Morava E, et al. Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401719 Free PMC article. Review.
Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe skin symptoms of elastin deficiency. These findings suggest that the cutis laxa and wrinkly skin syndromes are phenoty …
Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe …