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Page 1
Down syndrome in diverse populations.
Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043. Am J Med Genet A. 2017. PMID: 27991738
Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Afric …
Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brach …
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC, Bruno I, Barbi E, Sirchia F. Wiel LC, et al. Ital J Pediatr. 2022 May 12;48(1):72. doi: 10.1186/s13052-022-01267-w. Ital J Pediatr. 2022. PMID: 35550183 Free PMC article. Review.
Cryptorchidism, shawl scrotum, mild clinodactyly of the right little finger and bilateral syndactyly of the II and III toes with sandal gap were also noted. The radiographic essay demonstrated delayed bone age and echocardiography showed mild mitral prolapse. ...
Cryptorchidism, shawl scrotum, mild clinodactyly of the right little finger and bilateral syndactyly of the II and III toes with sandal …
Accuracy of the clinical diagnosis of Down syndrome.
Devlin L, Morrison PJ. Devlin L, et al. Ulster Med J. 2004 May;73(1):4-12. Ulster Med J. 2004. PMID: 15244118 Free PMC article.

This fell to 37.5% of mosaic Down syndrome patients being diagnosed clinically (p < 0.001). Simian crease, sandal gap, epicanthic folds, hypotonia, upslanting palpebral fissures, and protruding tongue are the most frequent characteristic features seen. Similarly

…

This fell to 37.5% of mosaic Down syndrome patients being diagnosed clinically (p < 0.001). Simian crease, sandal gap, epic

…
Prenatal sonographic markers of trisomy 21.
Tongsong T, Wanapirak C, Sirichotiyakul S, Sirivatanapa P. Tongsong T, et al. J Med Assoc Thai. 2001 Feb;84(2):274-80. J Med Assoc Thai. 2001. PMID: 11336089
In this study, rare minor markers but more specific markers including sandal gap, clinodactyly and mid-phalanx hypoplasia of the fifth finger were demonstrated. ...
In this study, rare minor markers but more specific markers including sandal gap, clinodactyly and mid-phalanx hypoplasia of t …
Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
Ryu JK, Cho JY, Choi JS. Ryu JK, et al. Korean J Radiol. 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. Korean J Radiol. 2003. PMID: 14726642 Free PMC article.
We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5 …
We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesome …
Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Danso KA, Akuaku RS, Young FNA, Wiafe SA. Danso KA, et al. Pan Afr Med J. 2021 Nov 4;40:136. doi: 10.11604/pamj.2021.40.136.31395. eCollection 2021. Pan Afr Med J. 2021. PMID: 34909104 Free PMC article.
The main dysmorphic features we observed in our patient were; macrocephaly with widely gaped sagittal sutures, proptosis with ocular hypertelorism, ankylosed elbows, wide sandal gap and medially deviated broad great toes. In this case, sequence analysis using Illumi …
The main dysmorphic features we observed in our patient were; macrocephaly with widely gaped sagittal sutures, proptosis with ocular hyperte …
Ultrasonographically detectable markers of fetal chromosomal abnormalities.
Nicolaides KH, Snijders RJ, Gosden CM, Berry C, Campbell S. Nicolaides KH, et al. Lancet. 1992 Sep 19;340(8821):704-7. doi: 10.1016/0140-6736(92)92240-g. Lancet. 1992. PMID: 1355807
In trisomy 21, the associated defects were subtle and included nuchal oedema, macroglossia, atrioventricular septal defects, mild hydronephrosis, clinodactyly, and sandal gap. The frequency of autosomal abnormalities increased with maternal age, but if fetal karyoty …
In trisomy 21, the associated defects were subtle and included nuchal oedema, macroglossia, atrioventricular septal defects, mild hydronephr …
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.
Alomari AI. Alomari AI. Clin Dysmorphol. 2009 Jan;18(1):1-7. doi: 10.1097/MCD.0b013e328317a716. Clin Dysmorphol. 2009. PMID: 19011570
Acral deformities included large, wide feet and hands, macrodactyly, and a wide sandal gap. Scoliosis and other musculoskeletal, neurologic, renal, and cutaneous malformations were also encountered. ...
Acral deformities included large, wide feet and hands, macrodactyly, and a wide sandal gap. Scoliosis and other musculoskeleta …
Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia.
Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, Nor Atifah MA, Kannan TP, Zilfalil BA. Azman BZ, et al. Singapore Med J. 2007 Jun;48(6):550-4. Singapore Med J. 2007. PMID: 17538755 Free article.
Characteristic limb and dermatoglyphic anomalies included short stubby fingers (24.5 percent), sandal gap (33.3 percent), unilateral or bilateral simian crease (36.8 percent) and clinodactyly (19.2 percent). ...
Characteristic limb and dermatoglyphic anomalies included short stubby fingers (24.5 percent), sandal gap (33.3 percent), unil …
An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies.
Hobbins JC, Lezotte DC, Persutte WH, DeVore GR, Benacerraf BR, Nyberg DA, Vintzileos AM, Platt LD, Carlson DE, Bahado-Singh RO, Abuhamad AZ. Hobbins JC, et al. J Ultrasound Med. 2003 Jan;22(1):33-8. doi: 10.7863/jum.2003.22.1.33. J Ultrasound Med. 2003. PMID: 12523608
Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal gap) and 46.5% (nuchal skin fold thickness). A condensed regimen of nuchal skin fold thickness, femur length, and a standard anatomic …
Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal …
13 results