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Last update 08 May 2025

Thakker Donnai Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Dysmorphic facial features and multiple structural abnormalities, Dysmorphism multiple structural anomalies, Dysmorphism-multiple structural anomalies syndrome

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Introduction

A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short oesophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.

Clinical Trials associated with Thakker Donnai Syndrome

NCT03398629

/ RecruitingNot ApplicableIIT

Diagnosis and Management of Intrauterine Growth Restriction, Structural Anomalies and Chromosomal Anomalies: A Prospective Cohort Study

The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks of fetuses/infants with IUGR or congenital anomalies, which provide vital support and research foundation for accurate diagnosis, precision treatment and meticulous management.

Start Date01 May 2019

Sponsor / Collaborator

Guangzhou Women & Childrens Medical Center

NCT03482141

/ CompletedNot ApplicableIIT

Clinical Utility of Prenatal Whole Exome Sequencing

The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.

Start Date01 Aug 2017

Sponsor / Collaborator

The University of California, San Francisco

100 Clinical Results associated with Thakker Donnai Syndrome

100 Translational Medicine associated with Thakker Donnai Syndrome

0 Patents (Medical) associated with Thakker Donnai Syndrome

Literatures (Medical) associated with Thakker Donnai Syndrome

01 Jan 2025·Acta Obstetricia et Gynecologica Scandinavica

Prediction of uterine rupture in singleton pregnancies with one prior cesarean birth undergoing TOLAC: A cross‐sectional study

Article

Author: Mustafa, Hiba J. ; Arkerson, Brittany J. ; Thakur, Nisha ; D'Souza, Rohan ; Muraca, Giulia M. ; Khalil, Asma ; Javinani, Ali

AbstractIntroductionBeing able to counsel patients with one prior cesarean birth on the risk of uterine rupture with a trial of labor after cesarean, (TOLAC) is an important aspect of prenatal care. Despite uterine rupture being a catastrophic event, there is currently no successful, validated prediction model to predict its occurrence.Material and MethodsThis was a cross‐sectional study using US national birth data between 2014 and 2021. The primary objective was to identify risk factors for uterine rupture during TOLAC and to generate a prediction model for uterine rupture among singleton gestations with one prior cesarean as their only prior birth. The secondary objective was to describe the maternal and neonatal morbidity associated with uterine rupture. The association of all candidate variables with uterine rupture was tested with uni‐ and multi‐variable logistic regression analyses. We included term and preterm singleton pregnancies with one prior birth that was cesarean birth (CB) with cephalic presentation undergoing TOLAC. We excluded pregnancies with major structural anomalies and chromosomal abnormalities. The Receiver Operating Characteristics (ROC) Curve was generated. p value <0.001 was considered statistically significant.ResultsOf the 270 329 singleton pregnancies with one prior CB undergoing TOLAC during the study period, there were 957 cases of uterine rupture (3.54 cases per 1000). Factors associated with uterine rupture in multivariable models were an interpregnancy interval < 18 months vs the reference interval of 24–35 months (aOR 1.55; 95% CI, 1.19–2.02), induction of labor (aOR 2.31; 95% CI, 2.01–2.65), and augmentation of labor (aOR 1.94; 95% CI, 1.70–2.21). Factors associated with reduced rates of uterine rupture were maternal age < 20 years (aOR 0.33, 95% CI 0.15–0.74) and 20–24 years (aOR 0.79, 95% CI 0.64–0.97) vs the reference of 25–29 years and gestational age at delivery 32–36 weeks vs the reference of 37–41 weeks (aOR 0.55, 95% CI 0.38–0.79). Incorporating these factors into a predictive model for uterine rupture yielded an area under the receiver‐operating curve of 0.66. Additionally, all analyzed maternal and neonatal morbidities were increased in the setting of uterine rupture compared to non‐rupture.ConclusionsUterine rupture prediction models utilizing TOLAC characteristics have modest performance.

01 May 2024·American Journal of Perinatology

Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18

Article

Author: Tate, Tyler ; Dukhovny, Stephanie ; Marshall, Mayme ; Kim, Amanda J.H. ; Ronai, Christina ; Gievers, Ladawna ; Taub, Sara ; Madriago, Erin J.

Objective Trisomy 13 (T13) and 18 (T18) are aneuploidies associated with multiple structural congenital anomalies and high rates of fetal demise and neonatal mortality. Historically, patients with either one of these diagnoses have been treated similarly with exclusive comfort care rather than invasive interventions or intensive care, despite a wide phenotypic variation and substantial variations in survival length. However, surgical interventions have been on the rise in this population in recent years without clearly elucidated selection criterion. Our objective was to create a standardized approach to counseling expectant persons and parents of newborns with T13/T18 in order to provide collaborative and consistent counseling and thoughtful approach to interventions such as surgery. Study Design This article describes our process and presents our resulting clinical care guideline. Results We formed a multi- and interdisciplinary committee. We used published literature when available and otherwise expert opinion to develop an approach to care featuring individualized assessment of the patient to estimate qualitative mortality risk and potential to benefit from intensive care and/or surgeries centered within an ethical framework. Conclusion Through multidisciplinary collaboration, we successfully created a patient-centered approach for counseling families facing a diagnosis of T13/T18. Other institutions may use our approach as a model for developing their own standardized approach. Key Points

01 Nov 2023·The Cleft Palate Craniofacial Journal

Single-stage Repair of Bilateral Cleft Lip and Bilateral Transverse Facial Cleft in Goldenhar Syndrome: A Case Report

Article

Author: Kim, Ju Hee ; Lim, So Young

Goldenhar syndrome (GS) is a rare congenital disorder characterized by multiple facial anomalies. This case report describes a GS presenting with bilateral cleft lip and palate and bilateral transverse facial cleft. We performed a single-stage surgery to repair the bilateral cleft lip and bilateral transverse facial cleft when the patient was 4-months-old. Bilateral cleft lip repair using the Mulliken method was performed first, and then the bilateral transverse facial cleft was corrected. Orbicularis oris muscle repair was done at each clefts. Anatomical approximation technique was used and the final oral commissure was determined considering symmetry. Satisfactory outcomes were achieved without complications.

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