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Page 1
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E. Slavotinek A, et al. Eur J Med Genet. 2022 Feb;65(2):104407. doi: 10.1016/j.ejmg.2021.104407. Epub 2021 Dec 20. Eur J Med Genet. 2022. PMID: 34942405 Free PMC article.
We present three fetuses and a male neonate with ventriculomegaly/hydrocephalus, absence of the corpus callosum (ACC), cerebellar hypoplasia, retinal dysplasia, lung lobulation defects, renal dysplasia, imperforate or anteriorly placed anus, thymus hypoplasia …
We present three fetuses and a male neonate with ventriculomegaly/hydrocephalus, absence of the corpus callosum (ACC), cerebellar hypoplasia …
Severe constipation: an under-appreciated cause of VP shunt malfunction: a case-based update.
Martínez-Lage JF, Martos-Tello JM, Ros-de-San Pedro J, Almagro MJ. Martínez-Lage JF, et al. Childs Nerv Syst. 2008 Apr;24(4):431-5. doi: 10.1007/s00381-007-0514-3. Epub 2007 Oct 10. Childs Nerv Syst. 2008. PMID: 17926043 Review.
One of the patients constitutes the first description of this complication associated with an anteriorly placed anus and the other with intestinal paresis after ileostomy. ...
One of the patients constitutes the first description of this complication associated with an anteriorly placed anus an …
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.
Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW. Mishra R, et al. BMC Pediatr. 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z. BMC Pediatr. 2018. PMID: 29310616 Free PMC article. Review.
Systemic abnormalities included multiple cardiac defects, namely double outlet right ventricle, ostium secundum atrial septal defect, mild pulmonary stenosis, small patent ductus arteriosus, and bilateral superior vena cavae. An anteriorly placed anus was als …
Systemic abnormalities included multiple cardiac defects, namely double outlet right ventricle, ostium secundum atrial septal defect, mild p …
Syndromic ear anomalies and renal ultrasounds.
Wang RY, Earl DL, Ruder RO, Graham JM Jr. Wang RY, et al. Pediatrics. 2001 Aug;108(2):E32. doi: 10.1542/peds.108.2.e32. Pediatrics. 2001. PMID: 11483842
Patients with auricular anomalies should be assessed carefully for accompanying dysmorphic features, including facial asymmetry; colobomas of the lid, iris, and retina; choanal atresia; jaw hypoplasia; branchial cysts or sinuses; cardiac murmurs; distal limb anomalies; and imperf …
Patients with auricular anomalies should be assessed carefully for accompanying dysmorphic features, including facial asymmetry; colobomas o …
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
Romano F, De Marco P, Ognibene M, Di Duca M, Baldassari S, Pavanello M, Piatelli G, Zara F, Capra V. Romano F, et al. Birth Defects Res. 2021 Sep 1;113(15):1161-1165. doi: 10.1002/bdr2.1936. Epub 2021 Jun 22. Birth Defects Res. 2021. PMID: 34156759
BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly place …
BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal ma …
Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z. Yeşilyurt A, et al. Genet Couns. 2011;22(1):35-40. Genet Couns. 2011. PMID: 21614986
She was born with mild hypotonia, intrauterine growth retardation, microcephaly, micrognathia, large low set ears, pectus excavatum, anteriorly placed anus, and bilateral clinodactyly. Echocardiography showed left ventricular hypertrophy, bicuspid aortic valv …
She was born with mild hypotonia, intrauterine growth retardation, microcephaly, micrognathia, large low set ears, pectus excavatum, ante …
Anorectal malformations in female children--10 years experience.
Hashmi MA, Hashmi S. Hashmi MA, et al. J R Coll Surg Edinb. 2000 Jun;45(3):153-8. J R Coll Surg Edinb. 2000. PMID: 10881480
Ninety-four cases (72%) had what are traditionally known as "low" anorectal malformations (perineal fistulae, anteriorly placed anus and anorecto-vestibular fistulae). Ten percent (n = 14) had translevator, and 17% (n = 22) were found to have "high" lesions. …
Ninety-four cases (72%) had what are traditionally known as "low" anorectal malformations (perineal fistulae, anteriorly placed …
Urethral duplication in girls: Three cases associating an accessory epispadiac urethra and a main hypospadiac urethra.
Bouty A, Lefevre Y, Harper L, Dobremez E. Bouty A, et al. J Pediatr Urol. 2016 Aug;12(4):209.e1-5. doi: 10.1016/j.jpurol.2016.05.001. Epub 2016 May 14. J Pediatr Urol. 2016. PMID: 27267991
In Case 3, the duplication was associated with a urogenital sinus and an anteriorly placed anus. Management involved resection of the epispadiac accessory urethra to achieve continence, with dilatation and/or mobilisation of the hypospadiac one. ...
In Case 3, the duplication was associated with a urogenital sinus and an anteriorly placed anus. Management involved re …
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. Bardakjian TM, et al. BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137. BMC Med Genet. 2009. PMID: 20003547 Free PMC article.
The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, an …
The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, c …
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
Bernardi P, Graziadio C, Rosa RF, Dall'Agnol L, Zen PR, Paskulin GA. Bernardi P, et al. Am J Med Genet A. 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943. Am J Med Genet A. 2009. PMID: 19533791
In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition....
In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, whi …