Inherited cause of in utero digital malformations

2020 ◽  
Vol 13 (3) ◽  
pp. e232020
Author(s):  
Catherine Gooch ◽  
Caitlin Wright ◽  
Katherine Nelson ◽  
Nathaniel Robin
Keyword(s):  
Birth Defect ◽  
Medical Literature ◽  
In Utero ◽  
Ehlers Danlos Syndrome ◽  
Amniotic Band ◽  
The Third ◽  
Vascular Type ◽  
Band Sequence ◽  
Amniotic Band Sequence ◽  
Danlos Syndrome

Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical literature. The two main theories of ABS formation are the extrinsic and intrinsic. The extrinsic theory states that placental tears form fibrous cords that wrap around the fetus; the intrinsic states that poor vascularisation in the fetus leads to necrosis of distal extremities. We believe this case supports extrinsic theory as it shows that as an amnion weakened by vEDS in fetal components is associated with ABS.

Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome

2019 ◽  
Vol 182 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Mary B. Callaghan ◽  
Rob Hadden ◽  
Jon S. King ◽  
Katherine Lachlan ◽  
Fleur S. Dijk ◽  
...  
Keyword(s):  
Ehlers Danlos Syndrome ◽  
Amniotic Band ◽  
Band Sequence ◽  
Amniotic Band Sequence ◽  
Danlos Syndrome

Unusual Case of Amniotic Band Sequence

2016 ◽  
Vol 25 (5) ◽  
pp. 430-430
Author(s):  
Stefan Kostadinov ◽  
Svetlana Shapiro
Keyword(s):  
Unusual Case ◽  
Amniotic Band ◽  
Band Sequence ◽  
Amniotic Band Sequence

scholarly journals Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Filipa Pereira ◽  
Teresa Cardoso ◽  
Paula Sá
Keyword(s):  
Renal Artery ◽  
Cardiopulmonary Arrest ◽  
Fatal Outcome ◽  
Vascular Complication ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Recent Diagnosis ◽  
The Right ◽  
Danlos Syndrome

Ehlers-Danlos syndrome(EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in theCOL3A1gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

scholarly journals Amniotic Band Sequence - A Debilitating Syndrome

2012 ◽  
Vol 52 (188) ◽  
Author(s):  
R Uma ◽  
A Garg ◽  
S K Patnaik
Keyword(s):  
Caesarean Section ◽  
Genetic Counselling ◽  
Index Finger ◽  
Amniotic Band ◽  
Risk Of Recurrence ◽  
Left Hand ◽  
Male Baby ◽  
Band Sequence ◽  
Amniotic Band Sequence ◽  
Little Finger

A male baby was delivered by Caesarean section at term to a 35 years second gravida lady with fibroid uterus. The mother was booked and immunized and not on any medication. Antenatal and natal periods including serial ultrasounds were normal. At birth the neonate was observed to have multiple grooves over ring & middle index finger of left hand and hypoplasia of left little finger. Both great toes were amputated. In view of asymmetrical involvement, presence of amniotic bands, no other organ involvement and sporadic nature, he was diagnosed as a case of amniotic band sequence. Congenital amputations should be distinguished from congenital hypoplasia and/or aplasia. Differentiation is important for genetic counselling and evaluation of the risk of recurrence. Keywords: Amniotic Bands, Intrauterine Amputation, Intrauterine Constriction Rings.

Amniotic band sequence associated with ectopia cordis in one twin

1984 ◽  
Vol 105 (5) ◽  
pp. 817-819 ◽  
Author(s):  
Frederick R. Bieber ◽  
Mapareh Mostoufi-zadeh ◽  
Jason C. Birnholz ◽  
Shirley G. Driscoll
Keyword(s):  
Ectopia Cordis ◽  
Amniotic Band ◽  
Band Sequence ◽  
Amniotic Band Sequence

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

2009 ◽  
Vol 149A (8) ◽  
pp. 1734-1739 ◽  
Author(s):  
B. Isidor ◽  
G. Baujat ◽  
C. Le Caignec ◽  
O. Pichon ◽  
D. Martin-Coignard ◽  
...  
Keyword(s):  
Human Phenotype ◽  
Amniotic Band ◽  
Band Sequence ◽  
Amniotic Band Sequence

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

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