[HTML][HTML] The spectrum of external dysmorphic features among newborns
O Sunil, MST Gowda - National Journal of Clinical Anatomy, 2022 - journals.lww.com
… Subsequently, this forms a guideline to establish birth defect registry in hospital and referral
of the birth defect cases to DEIC at the earliest for effective management of the neonate/infant…
of the birth defect cases to DEIC at the earliest for effective management of the neonate/infant…
Anatomy and embryology of congenital surgical anomalies: Congenital Anomalies of the Kidney and Urinary Tract
CS Costigan, ND Rosenblum - Seminars in Pediatric Surgery, 2022 - Elsevier
… Congenital anomalies of the kidney and urinary tract or “CAKUT” describes a spectrum of
developmental disorders with a range of associated clinical presentations and functional …
developmental disorders with a range of associated clinical presentations and functional …
[HTML][HTML] Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
J Fabian, GC Dworschak, L Waffenschmidt… - European Journal of …, 2023 - nature.com
… syndrome or within the spectrum of additional congenital … are congenital heart defects (CHD),
congenital anomalies of … ARM as part of her VATER/VACTERL association, with further …
congenital anomalies of … ARM as part of her VATER/VACTERL association, with further …
A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23. 1
Y Li, P Liu, W Wang, H Jia, Y Bai, Z Yuan, Z Yang - Pediatric Research, 2024 - nature.com
… and had no family history of congenital malformations. There were also no previous reports
of … and VACTERL and expand the genetic spectrum associated with this clinical condition. …
of … and VACTERL and expand the genetic spectrum associated with this clinical condition. …
Management of esophageal lung in a patient with VACTERL anomalies
KN Harrell, J Brent Moss, S Dave Bhattacharya… - 2020 - journals.sagepub.com
… VACTERL association is a term used to describe nonrandomly associated congenital defects
… part of the spectrum of congenital bronchopulmonary malformations. Surgical intervention, …
… part of the spectrum of congenital bronchopulmonary malformations. Surgical intervention, …
[HTML][HTML] A Population-Based Cohort Study on Diagnosis and Early Management of Anorectal Malformation in the UK and Ireland
AM Long, JR Davidson, A Tyraskis, M Knight… - Journal of Pediatric …, 2024 - Elsevier
… The spectrum of deviation from normal anatomy ranges from … VACTERL association was
less likely to be missed. Type of … of care for complex congenital anomalies has formed a …
less likely to be missed. Type of … of care for complex congenital anomalies has formed a …
[HTML][HTML] Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
GC Dworschak, HM Reutter, M Ludwig - Orphanet Journal of Rare …, 2021 - Springer
… seen in VATER/VACTERL association (OMIM% 192350), caudal regression syndrome (OMIM
#… Although mutant mice with various defects in SHH signaling only displayed a spectrum of …
#… Although mutant mice with various defects in SHH signaling only displayed a spectrum of …
[HTML][HTML] … inference epidemiological analysis of US survey and overview of cannabis, cannabidiol and cannabinoid genotoxicity in relation to congenital anomalies …
AS Reece, GK Hulse - BMC pediatrics, 2022 - Springer
… However clinical confirmation of such a concerning and wide-ranging spectrum of
congenital anomalies was mostly lacking. In 2007 a novel report from Hawaii listed 21 …
congenital anomalies was mostly lacking. In 2007 a novel report from Hawaii listed 21 …
A spectrum of ultrasound and MR imaging of fetal gastrointestinal abnormalities: part 2 anorectal malformation, liver, and abdominal wall anomalies
B Moradi, M Banihashemian… - … of Ultrasound in …, 2022 - Wiley Online Library
… malformation (ARM) is a rare congenital anomaly which encompasses a wide range of
anomalies from … of lumbosacral and other associated abnormalities as in VACTERL association. …
anomalies from … of lumbosacral and other associated abnormalities as in VACTERL association. …
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
CM Kolvenbach, T Felger, L Schierbaum… - Journal of medical …, 2023 - jmg.bmj.com
… The two affected individuals of family A fulfil the clinical criteria of VATER/VACTERL
association, defined by the presence of at least three of the following CFs: vertebral …
association, defined by the presence of at least three of the following CFs: vertebral …