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Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype …
Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome …
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired sp …
Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith sy …
Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome.
Mitsukawa N, Satoh K. Mitsukawa N, et al. J Plast Reconstr Aesthet Surg. 2010 Aug;63(8):e611-4. doi: 10.1016/j.bjps.2010.01.028. Epub 2010 Mar 29. J Plast Reconstr Aesthet Surg. 2010. PMID: 20303330
The Marshall-Smith syndrome is a very rare disorder with early overgrowth and was first reported by Marshall et al. in 1971. Patients with the Marshall-Smith syndrome have characteristic facial features and systemic congenital abnormaliti …
The Marshall-Smith syndrome is a very rare disorder with early overgrowth and was first reported by Marshall et al. in …
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. van Balkom ID, et al. J Intellect Disabil Res. 2011 Oct;55(10):973-87. doi: 10.1111/j.1365-2788.2011.01451.x. Epub 2011 Jul 26. J Intellect Disabil Res. 2011. PMID: 21790824
BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. ...
BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, devel …
Marshall-Smith syndrome: the expanding phenotype.
Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. Williams DK, et al. J Med Genet. 1997 Oct;34(10):842-5. doi: 10.1136/jmg.34.10.842. J Med Genet. 1997. PMID: 9350818 Free PMC article.
We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. ...
We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial featu …
Building treasures for rare disorders.
Baas M, Huisman S, van Heukelingen J, Koekkoek G, Laan HW, Hennekam RC. Baas M, et al. Eur J Med Genet. 2015 Jan;58(1):11-3. doi: 10.1016/j.ejmg.2014.10.006. Epub 2014 Nov 4. Eur J Med Genet. 2015. PMID: 25449139
Long-term follow-up of Marshall-Smith syndrome: report of one case.
Hou JW. Hou JW. Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):232-5. Acta Paediatr Taiwan. 2004. PMID: 15624371
The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failure to thrive, and accelerated osseous maturation. ...
The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failu …
Congenital abnormalities and clinical features associated with Wilms' tumour: a comprehensive study from a centre serving a large population.
Ng A, Griffiths A, Cole T, Davison V, Griffiths M, Larkin S, Parkes SE, Mann JR, Grundy RG. Ng A, et al. Eur J Cancer. 2007 Jun;43(9):1422-9. doi: 10.1016/j.ejca.2007.03.020. Epub 2007 May 17. Eur J Cancer. 2007. PMID: 17499987
Congenital abnormalities were present in 45% of the examined cohort, in 19% of the case notes review group and in 30% overall. Novel findings included the association of WT with Marshall Smith syndrome, developmental delay in 3 of 4 cases of WT (one bilateral …
Congenital abnormalities were present in 45% of the examined cohort, in 19% of the case notes review group and in 30% overall. Novel finding …
Inflammatory cloacogenic polyp in a child: part of the spectrum of solitary rectal ulcer syndrome.
Washington K, Rourk MH Jr, McDonagh D, Oldham KT. Washington K, et al. Pediatr Pathol. 1993 Jul-Aug;13(4):409-14. doi: 10.3109/15513819309048229. Pediatr Pathol. 1993. PMID: 8372025
A 15-year-old boy with Marshall-Smith syndrome presented with increased frequency and urgency of stooling, hematochezia, and rectal pain. ...
A 15-year-old boy with Marshall-Smith syndrome presented with increased frequency and urgency of stooling, hematochezia …