Biliary anomalies, although not classically included in the definition, have been documented in individuals with VACTERL syndrome, adding more complexity to this condition. Patients with biliary anomalies may present with jaundice, abdominal pain, or poor growth. The presence of biliary anomalies in ...
the recurrence risk is likely relatively low as long as similar conditions with inherited forms are ruled-out (such as Fanconi anemia, Feingold syndrome, Holt-Oram syndrome, Townes-Brocks
S Guptha,C Shumate,AE Scheuerle - 《American Journal of Medical Genetics Part A》 被引量: 0发表: 2019年 2. Surgical Approach to Mullerian Anomaly with Coexisting Renal Agenesis and VATER Syndrome We present the case of a 23-year-old female with severe cyclical pelvic pain and amenorrhea wit...
7.Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.[J].Hiroko Ueda;Tokio Sugiura;Satoru Takeshita;Koichi Ito;Hiroki Kakita;Rika Nagasaki;Kenji Kurosawa;Shinji Saitoh,European Journal of Pediatrics.2014,第11期 ...
(and still remains no) evidence for a single, unifying cause that would result in the condition being termed a syndrome. One explanation for the clustering of features involves the idea of the "developmental field defect", in which malformations that occur in blastogenesis tend to result in ...
Heterotaxy syndromeX chromosome linked disorderArticleThe ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left-right body axis formation. Mutations in this X-linked gene cause a variety of clinical manifestations including heterotaxy, complex or ...
American Journal of Medical Genetics Part C: Seminars in Medical GeneticsEvans JA , Stranc LK , Kaplan P , Hunter AGW ( 1987 ): VACTERL with hydrocephalus: further delineation of the syndrome(s) . Am J Med Genet 34 : 177 – 182 ....
We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound). Eighteen of the fifty-four patients had three or more VACTERL-H features. The presence of VACTERL-H ...
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Killoran C E,Abbott M,McKusick V A,Biesecker L G. Clinical Genetics . 2000Killoran CE,Abbott M,McKusick VA et al.Overlap of PIV syndrome,VACTERL and Pallister-Hall syndrome:clinical and molecular ...
This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-oesophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). Additional support for genetic ...