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1977 1
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14 results

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Page 1
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. Schrauwen I, et al. J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5. J Bone Miner Res. 2019. PMID: 30395363 Free PMC article. Clinical Trial.
Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA), …
Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more p …
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R. Pfeiffer RA, et al. Birth Defects Orig Artic Ser. 1977;13(1):319-37. Birth Defects Orig Artic Ser. 1977. PMID: 322750 Review.
Nothing has to be added to the teratologic series published by Muller [58] and, more recently, Willert and Henkel [109], but the distribution of the various manifestations may diverge. Asymmetry in 4q- (4r) is noteworthy. Postaxial polydactyly which is noted in tris …
Nothing has to be added to the teratologic series published by Muller [58] and, more recently, Willert and Henkel [109], but the distributio …
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
Kaur P, Chaudhry C, Neelam H, Panigrahi I. Kaur P, et al. BMJ Case Rep. 2021 Jan 28;14(1):e236325. doi: 10.1136/bcr-2020-236325. BMJ Case Rep. 2021. PMID: 33509858 Free PMC article.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polyd …
Phenotypic variability in Patau syndrome.
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV. Caba L, et al. Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24340511
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. ...RESULTS: Of the 14 cases, 3 were evaluated pathologically (two aborted foet …
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microph …
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. De Mori R, et al. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC article.
The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. …
The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth si …
Is Epinephrine Safe for Infant Digit Excision? A Retrospective Review of 402 Polydactyly Excisions in Patients Younger than 6 Months.
Mantilla-Rivas E, Tan P, Zajac J, Tilt A, Rogers GF, Oh AK. Mantilla-Rivas E, et al. Plast Reconstr Surg. 2019 Jul;144(1):149-154. doi: 10.1097/PRS.0000000000005719. Plast Reconstr Surg. 2019. PMID: 31246822
Although several reports have refuted this notion, the precept is still propagated in many clinical forums. For many years, the authors have used lidocaine with epinephrine to perform removal of postaxial polydactyly in infants and have observed few complicat …
Although several reports have refuted this notion, the precept is still propagated in many clinical forums. For many years, the autho …
Low-molecular-weight heparin for thrombophilia in pregnant women.
Bar J, Cohen-Sacher B, Hod M, Blickstein D, Lahav J, Merlob P. Bar J, et al. Int J Gynaecol Obstet. 2000 Jun;69(3):209-13. doi: 10.1016/s0020-7292(00)00202-2. Int J Gynaecol Obstet. 2000. PMID: 10854861 Clinical Trial.
RESULTS: No significant differences were noted between the groups in the incidence of congenital malformations or abortions, IUGR or preterm deliveries. One infant in group 1 had familial bilateral postaxial polydactyly of the hands and one in group 3 had patent duc …
RESULTS: No significant differences were noted between the groups in the incidence of congenital malformations or abortions, IUGR or preterm …
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Hayat A, Khan AA, Rauf A, Khan SU, Hussain S, Ullah A, Ahmad W, Shams S, Khan B. Hayat A, et al. Clin Dysmorphol. 2020 Jan;29(1):17-23. doi: 10.1097/MCD.0000000000000294. Clin Dysmorphol. 2020. PMID: 31469663 Clinical Trial.
Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. ...
Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, ren …
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA. Barboza-Cerda MC, et al. Am J Med Genet A. 2013 Feb;161A(2):237-43. doi: 10.1002/ajmg.a.35743. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307567
The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild-to-moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, an …
The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. I …
Apparently normal frequency of congenital anomalies in the highly polluted town of Cubatão, Brazil.
Monteleone-Neto R, Castilla EE. Monteleone-Neto R, et al. Am J Med Genet. 1994 Sep 1;52(3):319-23. doi: 10.1002/ajmg.1320520313. Am J Med Genet. 1994. PMID: 7810563
A higher-than-expected prevalence rate in Cubatao was observed only for postaxial polydactyly, probably due to a higher proportion of black racial ancestry, while lower-than-expected rates were obtained for congenital dislocation of the hip, and for babies with mult …
A higher-than-expected prevalence rate in Cubatao was observed only for postaxial polydactyly, probably due to a higher propor …
14 results