multiple abnormalities


Summary: Congenital abnormalities that affect more than one organ or body structure.

Top Publications

  1. Iannicelli M, Brancati F, Mougou Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010;31:E1319-31 pubmed publisher
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin. ..
  2. Valente E, Logan C, Mougou Zerelli S, Lee J, Silhavy J, Brancati F, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42:619-25 pubmed publisher
    ..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders. ..
  3. Footz T, Idrees F, Acharya M, Kozlowski K, Walter M. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. Invest Ophthalmol Vis Sci. 2009;50:2599-606 pubmed publisher
    ..Together, the results clearly indicate that stringent control of PITX2 is required for normal ocular development and function. ..
  4. Stochholm K, Juul S, Gravholt C. Mortality and incidence in women with 47,XXX and variants. Am J Med Genet A. 2010;152A:367-72 pubmed publisher
    ..Better delineation of the clinical phenotype of 47,XXX is needed; available information does not readily explain the increased mortality...
  5. Ng S, Buckingham K, Lee C, Bigham A, Tabor H, Dent K, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42:30-5 pubmed publisher
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  6. Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, et al. Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. Am J Med Genet A. 2009;149A:1511-5 pubmed publisher
    ..No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity. ..
  7. Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?. Hum Mutat. 2009;30:E813-30 pubmed publisher
    ..Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes. ..
  8. Stankiewicz P, Sen P, Bhatt S, Storer M, Xia Z, Bejjani B, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009;84:780-91 pubmed publisher
    ..These differences reveal the phenotypic consequences of gene alterations in cis. ..
  9. Stoll C, Alembik Y, Dott B, Roth M. Associated malformations in patients with esophageal atresia. Eur J Med Genet. 2009;52:287-90 pubmed publisher
    ..The malformations associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 25 out of 46 patients (54%). ..

More Information


  1. Shaw Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. 2010;53:6-13 pubmed publisher
    ..This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway. ..
  2. Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis. 2009;4:25 pubmed publisher
    ..The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects. ..
  3. Dembinski J, Kroll M, Lewin M, Winkler P. [Unilateral pulmonary agenesis, aplasia and dysplasia]. Z Geburtshilfe Neonatol. 2009;213:56-61 pubmed publisher
    ..Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients. ..
  4. Layman W, McEwen D, Beyer L, Lalani S, Fernbach S, Oh E, et al. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009;18:1909-23 pubmed publisher
    ..These studies provide evidence that mammalian olfactory dysfunction due to Chd7 haploinsufficiency is linked to primary defects in olfactory neural stem cell proliferation and may influence olfactory bulb development. ..
  5. de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, et al. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat. 2009;30:669-76 pubmed publisher
    ..In summary, we further delineate an underdiagnosed mental retardation syndrome, highlighting TCF4 function during development and facilitating diagnosis within the first year of life. ..
  6. Horbelt C. Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. Gen Dent. 2010;58:14-7 pubmed
    ..Dental techniques and procedures performed on patients with any of these syndromes will be identical or very similar to those done on any other patient. ..
  7. Walecka A, Gawrych E, Sawicki M, Skała M, Zaborowski G. [Efficiency of imaging methods for the diagnosis of some congenital defects in neonates: personal experience]. Ann Acad Med Stetin. 2009;55:28-35 pubmed
    ..Diagnostic accuracy depends on the kind of anomaly. In neonates with urinary tract defects, follow-up examinations preceding planned surgery are essential for a good therapeutic outcome. ..
  8. Verin A, Creuze N, Musset D. Multidetector CT scan findings of a right aberrant retroesophageal vertebral artery with an anomalous origin from a cervical aortic arch. Chest. 2010;138:418-22 pubmed publisher
  9. Magdalene D, Kalita L, Deka A, Deka A, Deka C. Mid line craniofacial defects and morning glory disc anomaly with clinical anophthalmos-a distinct clinical entity. Orbit. 2010;29:57-9 pubmed publisher
    ..We report a case of a 4-month-old male baby, who was referred to our institute with the complaints of decreased vision. This is the first report from Northeastern part of India as per our knowledge. ..
  10. Bergoend E, Bouissou A, Paoli F, Roullet Renoleau N, Duchalais A, Neville P. A new technique for interrupted aortic arch repair: the Neville tube. Ann Thorac Surg. 2010;90:1375-6 pubmed publisher
    ..We are describing this method herein, with an 8-year follow-up of the first patient. ..
  11. Furutani A, Shiomi A, Kinugasa Y, Yamaguchi T, Kagawa H, Yamakawa Y, et al. [A Case Report of Robotic Assisted Laparoscopic Low Anterior Resection in a Patient with Rectal Cancer and Polysplenia Syndrome]. Gan To Kagaku Ryoho. 2018;45:163-165 pubmed
    ..A barium enema revealed a type 1 rectal tumor andwith non-rotation of intestine. CT revealed multiple abnormalities: a polyspleen, preduodenal portal vein, congenital absence of the pancreatic tail, bilateral superior vena ..
  12. Zhapa E, Rigamonti W, Castagnetti M. Hydrosalpinx in a patient with complex genitourinary malformation. J Pediatr Surg. 2010;45:2265-8 pubmed publisher
    ..The diagnosis of hydrosaplinx should be suspected in patients with complex genitourinary malformations and a pelvic fluid collection. Associated genital and renal anomalies are noted in 30% of cases...
  13. Blackmore K, Wynne D. A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. Int J Pediatr Otorhinolaryngol. 2010;74:967-9 pubmed
    ..The clinical presentation and the management of congenital pyriform aperture stenosis are discussed. ..
  14. Hertzler D, DePowell J, Stevenson C, Mangano F. Tethered cord syndrome: a review of the literature from embryology to adult presentation. Neurosurg Focus. 2010;29:E1 pubmed publisher
    ..Pertinent review of the neuroembryology and normal anatomical position of the conus medullaris is included. ..
  15. Deli T, Kovacs T. [Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia]. Orv Hetil. 2010;151:990-3 pubmed publisher
    ..To our knowledge, this is the first reported case of Pena-Shokeir syndrome in Hungary. ..
  16. Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns Le T, et al. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum Mutat. 2010;31:1233-9 pubmed publisher
  17. Hoefele J, Bertrand A, Stehr M, Leblanc T, Tchernia G, Simansour M, et al. Disorders of sex development and Diamond-Blackfan anemia: is there an association?. Pediatr Nephrol. 2010;25:1255-61 pubmed publisher
    ..To date, disorders of sex development (DSD) have only been described once in association with DBA. We report here four DBA patients who exhibited DSD. ..
  18. Kwiatkowska J, Aleszewicz Baranowska J, Erecinski J. [Left ventricular non-compaction in an infant with congenital heart defect]. Kardiol Pol. 2010;68:72-5 pubmed
    ..We report a case of a child with NCLV and coexisting hemodynamic significant ventricular septal defect. ..
  19. Demidenko A, Jakobiec F, Hanna E, Walton D. Congenital pupillary-iris-lens membrane with goniodysgenesis: histopathologic findings in an enucleated eye. J Pediatr Ophthalmol Strabismus. 2010;47:178-82 pubmed publisher
    ..Incomplete development of the iris may be partly attributable to an abnormality of stromal development and inductions by the anterior neuroectodermal layer, together with anomalies of the pupillo-iridial vasculature. ..
  20. Gatti C, Del Rossi C, Lombardi L, Caravaggi F, Casolari E, Casadio G. Sexuality and psychosocial functioning in young women after colovaginoplasty. J Urol. 2010;184:1799-803 pubmed publisher
    ..Based on the scoring system outcome colovaginoplasty seems to be an excellent choice to manage vaginal agenesis and ensure good quality of general and sexual life. ..
  21. Thottungal A, Charles A, Dickinson J, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 2010;152A:2578-87 pubmed publisher
    ..This series of cases is notable for the significant association with neural tube defects, refining the renal and urogenital pathology associated with these conditions, and supporting the concept of a continuum of the disease spectrum...
  22. Lupi M, Bonetti L, Trani N, Maccio L, Maiorana A. Congenital tracheal atresia in newborn: case report and review of the literature. Pathologica. 2009;101:235-9 pubmed
    ..Lung distal airspaces were lined by premature cubic epithelium separated by a broad poorly vascularized interstitium. A striking interstitial and alveolar edema was remarkable. ..
  23. Hughes T, Gaber A, Amiri H, Wang X, Elmer D, Winsett R, et al. Lipoprotein composition in insulin-dependent diabetes mellitus with chronic renal failure: effect of kidney and pancreas transplantation. Metabolism. 1994;43:333-47 pubmed
    ..The IDDM + CRF group had multiple abnormalities including (1) elevated TG, apolipoprotein (apo) C-II, and apo C-III levels in all lipid subfractions; (2) ..
  24. Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K. Radical surgery for a ventricular septal defect associated with trisomy 18. Gen Thorac Cardiovasc Surg. 2010;58:223-7 pubmed publisher
    ..The average survival of the patients in this study was 815 +/- 389 days at data acquisition, with two patients still alive. Closure of VSDs in patients with trisomy 18 was found feasible and was associated with extended survival. ..
  25. Kok E, Abed A, Robben S. Does the Use of a Checklist Help Medical Students in the Detection of Abnormalities on a Chest Radiograph?. J Digit Imaging. 2017;30:726-731 pubmed publisher
    ..Participants that used a checklist detected more abnormalities on images with multiple abnormalities (M = 50.1%) than participants that could not use a checklist (M = 41.9%), p = 0.04...
  26. Ko A, Gabikian P, Perkins J, Gruber D, Avellino A. Endoscopic repair of a rare basioccipital meningocele associated with recurrent meningitis. J Neurosurg Pediatr. 2010;6:188-92 pubmed publisher
    ..Note that recurrent meningitis in the setting of a skull base defect may indicate the presence of other congenital anomalies that will necessitate multidisciplinary care for a patient's long-term well-being. ..
  27. Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, et al. Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. Am J Med Genet A. 2010;152A:764-9 pubmed publisher
    ..This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity. ..
  28. Flynn J, Ramirez N, Betz R, Mulcahey M, Pino F, Herrera Soto J, et al. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. J Pediatr Orthop. 2010;30:282-8 pubmed publisher
    ..Prognostic Study Level II. ..
  29. Sepulveda W, Wong A, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. 2010;30:256-9 pubmed publisher
    ..The recognition of the specific first-trimester sonographic pattern of trisomy 18 may allow improved detection of this serious condition in early pregnancy. ..
  30. Castro S, Abreu P, Azevedo E, Silva M. A new pattern of arterial rete compensation of segmental basilar agenesis associated with carotid retia mirabilia: a case report (2010: 1b). Eur Radiol. 2010;20:1024-8 pubmed publisher
    ..The authors present a new case of carotid rete mirabilia associated with segmental basilar agenesis compensated by a previously unknown pattern of arterial rete. Collateral flow, its efficacy and differential diagnosis are discussed. ..
  31. Ludwig K, Tenconi R, Salmaso R. A case of femur-fibular-ulna complex with peculiar metaphyseal changes. Fetal Pediatr Pathol. 2010;29:255-60 pubmed publisher
    ..To our knowledge this is the first reported case of histologic metaphyseal alterations in association with the FFU complex. ..
  32. Lee J, Cho H, Lee E, Jung B. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome. Korean J Lab Med. 2010;30:312-7 pubmed publisher
    ..SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling. ..
  33. Harit D, Aggarwal A. CLOVE syndrome with nevus unis lateris: report of a case. Pediatr Dermatol. 2010;27:311-2 pubmed publisher
    ..We describe a neonate with features of CLOVE syndrome and nevus unius lateris...
  34. Hirata Y, Quaegebeur J, Mosca R, Takayama H, Chen J. Impact of aortic annular size on rate of reoperation for left ventricular outflow tract obstruction after repair of interrupted aortic arch and ventricular septal defect. Ann Thorac Surg. 2010;90:588-92 pubmed publisher
    ..5 mm, almost half of them needed reoperation. An LVOT bypass procedure (Yasui or Norwood) is recommended if the aortic annulus is less than the patient's weight + 1.0 mm. ..
  35. Vithayathil M, Edwards M. Comfrey herbal remedy causing second-degree heart block: do not be outfoxed by digitalis. BMJ Case Rep. 2016;2016: pubmed publisher
    ..Her ECG showed multiple abnormalities, including bradycardia, second-degree atrioventricular node block, Mobitz Type 2, a shortened QT interval, ..
  36. Mundhofir F, Kooper A, Winarni T, Smits A, Faradz S, Hamel B. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report. Genet Couns. 2010;21:99-108 pubmed
  37. Raam M, Solomon B, Shalev S, Muenke M. Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature. Am J Med Genet C Semin Med Genet. 2010;154C:176-82 pubmed publisher
    ..We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis. ..
  38. Tumino M, Licciardello M, Sorge G, Cutrupi M, Di Benedetto F, Amoroso L, et al. Kabuki syndrome and cancer in two patients. Am J Med Genet A. 2010;152A:1536-9 pubmed publisher
    ..In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma. ..
  39. Linhares R, Suaide Silva C, Monaco C, Ferreira L, Gil M, Ortiz J, et al. Echocardiographic identification of the oblique vein of the left atrium: its relationship to the persistent left superior caval vein. Cardiol Young. 2010;20:269-74 pubmed publisher
    ..We discuss the possibility that these structures represent Marshall's vein, albeit probably as part of a persistent left superior caval vein. ..
  40. Jian Z, Li J, Xiao Y. Rare association of tetralogy of Fallot with partially unroofed coronary sinus and PLSVC: case report. Thorac Cardiovasc Surg. 2010;58:117-9 pubmed publisher
    ..The postoperative course of this patient has been uneventful. ..
  41. Donahue S, Itharat P. A-pattern strabismus with overdepression in adduction: a special type of bilateral skew deviation?. J AAPOS. 2010;14:42-6 pubmed publisher
  42. Kremer M, Althof J, Derikx J, van Baren R, Heij H, Wijnen M, et al. The incidence of associated abnormalities in patients with sacrococcygeal teratoma. J Pediatr Surg. 2018;53:1918-1922 pubmed publisher
    ..2%) and hip dysplasia in 4.3%. Multiple abnormalities were documented for 21 (9.0%)...
  43. Horton W, Steiner M, Khan M. Complete Currarino triad presenting with diarrhea in a 7-month-old girl. South Med J. 2010;103:815-8 pubmed publisher
  44. Swarr D, Bloom D, Lewis R, Elenberg E, Friedman E, Glotzbach C, et al. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010;152A:565-72 pubmed publisher
    ..Finally, we provide recommendations for the health maintenance of patients with Potocki-Shaffer syndrome. ..
  45. Hoornaert K, Vereecke I, Dewinter C, Rosenberg T, Beemer F, Leroy J, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010;18:872-80 pubmed publisher
    ..On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome. ..
  46. Altunhan H, Annagur A, Ertugrul S, Pekcan S, Ors R. Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. Genet Couns. 2010;21:347-51 pubmed
    ..We report a male neonate with FSS and hyperpyrexia without anesthesia. To our knowledge, our patient is the first in the literature with hyperpyrexia in the newborn period without anesthesia. ..
  47. Mitanchez D, Walter Nicolet E, Humblot A, Rousseau V, Revillon Y, Hubert P. Neonatal care in patients with giant ompholocele: arduous management but favorable outcomes. J Pediatr Surg. 2010;45:1727-33 pubmed publisher
    ..Parents should be informed of the long hospitalization in the intensive care unit at birth, the potential nonthreatening associated malformations to be diagnosed after birth, and the high risk of sepsis. ..
  48. Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns Le T, Willaert A, et al. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet. 2010;128:79-88 pubmed publisher
    ..However, our family shows a dermatological and ultrastructural phenotype belonging to the Ehlers-Danlos rather than the cutis laxa spectrum. Therefore, the MACS acronym is not entirely appropriate for the current family. ..
  49. Brancati F, Dallapiccola B, Valente E. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20 pubmed publisher
    ..After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement. ..
  50. Rauen K, Tidyman W, Estep A, Sampath S, Peltier H, Bale S, et al. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010;152A:807-14 pubmed publisher
    ..This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway. ..
  51. Staud R, Weyl E, Price D, Robinson M. Mechanical and heat hyperalgesia highly predict clinical pain intensity in patients with chronic musculoskeletal pain syndromes. J Pain. 2012;13:725-35 pubmed publisher
    b>Multiple abnormalities in pain processing have been reported in patients with chronic musculoskeletal pain syndromes...
  52. Okten G, Sezer O, Gunes S, Kucukoduk S, Ogur G. Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p. Genet Couns. 2009;20:341-7 pubmed
    ..3;p22)pat.ish der(9)t(8;9)(q24.3;p22)pat (305J7-T7x1,wcp8+,wcp9+) in the third patient. This report compares the symptoms and features of our patients with previously reported patients with a 9p deletion syndrome. ..
  53. Shah M, Vasanthakumar A, Barnes N, Figueroa M, Kamp A, Hendrick C, et al. DNMT3B7, a truncated DNMT3B isoform expressed in human tumors, disrupts embryonic development and accelerates lymphomagenesis. Cancer Res. 2010;70:5840-50 pubmed publisher
    ..These data represent the first in vivo modeling of cancer-associated DNA methylation changes and suggest that truncated DNMT3B isoforms contribute to the redistribution of DNA methylation characterizing virtually every human tumor. ..