[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…

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 …

[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 …

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. …

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, …

[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 …

[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 …

[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 …

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. …

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 …