scholarly journals Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn

PRILOZI ◽  
2017 ◽  
Vol 38 (3) ◽  
pp. 153-155
Author(s):  
Orhideja Stomnaroska ◽  
Dragan Danilovski ◽  
Sanja Ivanovska
Keyword(s):  
Autosomal Dominant ◽  
Ultrasound Examination ◽  
Distal Phalanx ◽  
Apert Syndrome ◽  
Complete Fusion ◽  
Coronal Suture ◽  
Airway Compromise ◽  
Midfacial Hypoplasia ◽  
Hearing Difficulties

AbstractWe report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal.Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.

Anaesthesia Concerns in Apert Syndrome - A Case Report

2019 ◽  
Author(s):  
Nitish Upadhyay
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Congenital Anomalies ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Apert Syndrome ◽  
Successful Management ◽  
Rare Congenital Disorder ◽  
Midfacial Hypoplasia ◽  
Mode Of Transmission

Apert syndrome (AS) a type of acrocephalosyndactyly is a rare congenital disorder with autosomal dominant mode of transmission that consists of craniofacial synostosis, midfacial hypoplasia and bilateral limb syndactyly. Patients present in early childhood for multiple surgeries which make it imperative to know about various anaesthetic implications like difficult airway ventilation, airway hyper reactivity, associated congenital anomalies, increased airway secretions and deranged temperature thermoregulation associated with this syndrome. The patient should be thoroughly evaluated preoperatively and managed accordingly. We discuss the successful management of a three and a half years old male child with Apert syndrome.

Modulation of carotid strain by statin therapy in atherosclerosis patients

VASA ◽  
2017 ◽  
Vol 46 (2) ◽  
pp. 108-115 ◽  
Author(s):  
Christian Alexander Schaefer ◽  
Anna Katharina Blatzheim ◽  
Sebastian Gorgonius Passon ◽  
Kristin Solveig Pausewang ◽  
Nadjib Schahab ◽  
...  
Keyword(s):  
Statin Therapy ◽  
Pulse Wave ◽  
Ultrasound Examination ◽  
Ankle Brachial Index ◽  
Radial Strain ◽  
Strain Analysis ◽  
Duplex Ultrasound ◽  
Strain Imaging ◽  
The Common

Abstract. Background: The beneficial effect of statin therapy on the progress of atherosclerotic disease has been demonstrated by numerous studies. Vascular strain imaging is an arising method to evaluate arterial stiffness. Our study examined whether an influence of statin therapy on the vessel wall could be detected by vascular strain imaging. Patients and methods: 88 patients with recently detected atherosclerosis underwent an angiological examination including ankle-brachial index (ABI), pulse wave index (PWI), central puls ewave velocity and duplex ultrasound. Captures for vascular strain analysis were taken in B-mode during ultrasound examination of the common carotid artery and evaluated using a workstation equipped with a speckle tracking based software. A statin therapy was recommended and after six months a follow-up examination took place. Meanwhile, the non-adherence of a group of patients (N = 18) lead to a possibility to observe statin effects on the vascular strain. Results: In the statin non-adherent group the ABI decreased significantly to a still non-pathological level (1.2 ± 0.2 vs. 1.0 ± 0.2; p = 0.016) whereas it stagnated in the adherent group (1.0 ± 0.2 vs. 1.0 ± 0.2; p = 0.383). The PWI did not differ in the non-adherent group (180.5 ± 71.9 vs. 164.4 ± 75.8; p = 0.436) but under statin therapy it decreased significantly (261.8 ± 238.6 vs. 196.4 ± 137.4; p = 0.016). In comparison to the adherent group (4.2 ± 2.0 vs. 4.0 ± 1.8; p = 0.548) under statin therapy the radial strain decreased significantly in the non-adherent group (4.7 ± 2.0 vs. 3.3 ± 1.1; p = 0.014). Conclusions: Our findings reveal a beneficial influence of statin therapy on the arterial wall detected by vascular strain analysis.

The role of ultrasound examination in early detection and follow-up of arterio-portal shunts

2008 ◽  
Vol 29 (S 1) ◽  
Author(s):  
S Ioanitescu ◽  
L Micu ◽  
A Rampoldi ◽  
N Masala ◽  
V Marcu ◽  
...  
Keyword(s):  
Early Detection ◽  
Ultrasound Examination

scholarly journals Interdisziplinäre Betreuung von Menschen mit Marfan-Syndrom – Pharmakologie, Schwangerschaft, Auge, Skelett und organisatorische Aspekte

2021 ◽  
Author(s):  
Murat Yildiz ◽  
Gabor Matyas ◽  
Kerstin Wustmann ◽  
Christine Attenhofer Jost ◽  
Francesca Bonassin ◽  
...  
Keyword(s):  
Medikamentöse Therapie ◽  
Autosomal Dominant ◽  
Diagnostische Bildgebung ◽  
Fibrillin 1 ◽  
Interdisziplinäre Betreuung

ZusammenfassungIm ersten Teil des vorliegenden Beitrags wurde im Detail auf die Genetik, Diagnose, Differenzialdiagnose, die diagnostische Bildgebung, Follow-up, die kardiovaskulären Probleme sowie die Manifestation an Aorta und den großen Gefäßen bei Patienten mit dem Marfan-Syndrom (MFS) eingegangen. In diesem zweiten Teil werden die medikamentöse Therapie des MFS, seine Bedeutung im Zusammenhang mit einer Schwangerschaft, die Beteiligung von Augen und Wirbelsäule bei MFS-Patienten sowie die organisatorischen Aspekte einer Marfan-Sprechstunde erläutert. Das MFS ist mit einer Prävalenz von etwa 1–2:10.000 die häufigste hereditäre Bindegewebserkrankung mit vaskulärer Komponente. Ursache sind Mutationen im Gen, das für das extrazelluläre Matrixprotein Fibrillin‑1 kodiert. Die Erkrankung wird autosomal-dominant vererbt. Es handelt sich um eine Multisystemerkrankung mit Beteiligung der Aorta, der Mitralklappe, Augen- und Skelettveränderungen. Die Augen- und/oder die Wirbelsäulenbeteiligung sind nicht zu unterschätzen, da sowohl die Skoliose als auch die Linsendislokation etwa 60 % der Patienten mit MFS betreffen. Bis anhin konnte kein Wirkstoff einen klaren Vorteil hinsichtlich klinischer Ereignisse in MFS-Patienten zeigen. Es besteht jedoch der allgemeine Konsens, Patienten mit MFS einen β‑Rezeptoren- oder Angiotensinrezeptorblocker isoliert oder als Kombinationstherapie zu verabreichen. Bei bestehendem Kinderwunsch muss ein besonderes Augenmerk auf die Planung der Schwangerschaft gelegt werden. Im Fall eines Aortenwurzeldurchmessers > 4–4,5 cm empfiehlt sich, entweder einen prophylaktischen Aortenwurzelersatz zu erwägen oder von einer Schwangerschaft abzuraten. Eine strukturierte Langzeitbetreuung ist für Patienten mit MFS essenziell.

Distal interphalangeal Joint Arthrodesis using only Kirschner Wires in small distal Phalanges

2021 ◽  
Vol 53 (05) ◽  
pp. 462-466
Author(s):  
Jun-Ku Lee ◽  
Soonchul Lee ◽  
SeongJu Choi ◽  
Dong Hun Han ◽  
Jongbeom Oh ◽  
...  
Keyword(s):  
Distal Phalanx ◽  
Bony Union ◽  
Dash Score ◽  
Medical Database ◽  
X Ray ◽  
Wire Fixation ◽  
Distal Interphalangeal ◽  
K Wires ◽  
Quick Dash

Abstract Purpose To report the clinical and radiographic results of arthrodesis of relatively small-sized distal interphalangeal joints (DIPJs) using only K-wire fixation. Patients and methods Between January 2000 and December 2018 28 arthrodesis in 21 patients (9 males and 12 females with an average age of 52.1 years) with relatively small-sized DIPJs were performed using only K-wires. Data on patient’s characteristics, such as age, sex, affected finger, and the number and size of the used k-wires were collected from the medical database. The narrowest diameter of the cortex and medulla of the distal phalanx was measured on preoperative plain radiographs. The time to union and the arthrodesis angle was determined using serial X-ray radiography follow-up. Preoperatively and at the latest follow-up examination, pain using the visual analogue scale (VAS) and the quick DASH score was registered. In addition, complications were investigated. Results Average follow-up period was 11.4 months. The small finger was mostly affected (n = 12; 42.9 %). The narrowest diameters of the distal phalanx cortex and the medulla measured on preoperative X-ray images were 2.8 mm (SD 0.5) and 1.2 mm (SD 0.4), respectively. Seven fusions were done with use of 1 K-wire, 20 with 2 (71.4 %), and 1 with 3 K-wires. The most common K-wire sizes were 1.1-inch (24 K-wires = 48 %), and 0.9 inch (21 K-wires = 42 %) The preoperative VAS score and quick DASH score improved from 6.1 (range: 0–9) and 25.8 (range: 2–38) to 0.4 (range: 0–2) and 3.4 (range: 0–10.2), respectively. 25 (89.3 %) out of 28 fingers achieved bony union in an average of 96.1 days (range: 58–114) with three non-union. Conclusion Arthrodesis of small DIPJs with K-wire fixation has a high success rate. Therefore, we suggest K-wire fixation as an acceptable alternative for patients with a small phalanx which may be at risk of mismatch with bigger implants. However, concerns remain in terms of fusion delay with K-wire only fixation.

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

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